Abstract
The human porphyrias comprise a group of inherited and acquired disorders characterized by aberrations in activities of specific enzymes of the heme biosynthetic pathway. The nosology, natural history, and clinical characteristics of these diseases have been well reviewed by others (Taddeini and Watson, 1968; Dean, 1971; Tschudy and Lamon, 1980; Meyer and Schmid, 1978) and will be described in this review only to the extent that the biochemistry and genetics of these disorders seem to bear on their clinical presentations.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Aldrich, R. A., Hawkinson, V., Grinstein, M., and Watson, C. J., 1951, Photosensitive or congenital porphyria with hemolytic anemia. I. Clinical and fundamental studies before and after splenectomy, Blood 6:685–698.
Alvares, A. P., Leigh, S., Cohn, J., and Kappas, A., 1972, Lead and methyl mercury: Effects of acute exposure on cytochrome P450 and the mixed function oxidase system in the liver, J. Exp. Med. 135:1406–1409.
Amoroso, E. C., Loosmore, R. M., Rimington, C., and Tooth, B. E., 1957, Congenital porphyria in bovines: First living cases in Britain, Nature 180:230–231.
Anderson, K. E., Sassa, S., Peterson, C.M., and Kappas, A., 1977, Increased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias, Am. J. Med. 63:359–364.
Anderson, K. E., Bradlow, H. L., Sassa, S., and Kappas, A., 1979, Studies in porphyria VIII. Relationship of the 5α-reductase metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria, Am. J. Med. 66:644–650.
Anderson, P. M., 1979, Studies of human heme biosynthetic enzymes and acute intermittent porphyria. A dissertation submitted to the Graduate Faculty in Biomedical Sciences in partial fulfillment of the requirement for the degree of Doctor of Philosophy, The City University of New York.
Anderson, P. M., and Desnick, R. J., 1979, Purification and properties of δ-aminolevulinic acid dehydratase from human erythrocytes, J. Biol. Chem. 254:6924–6930.
Anderson, P. M., and Desnick, R. J., 1980, Purification and properties of uroporphyrinogen I synthase from human erythrocytes, Identification of stable enzyme-substrate intermediates, J. Biol. Chem. 255:1993–1999.
Aoki, Y., 1978, Crystallization and characterization of a new protease in mitochondria of bone marrow cells, J. Biol. Chem. 253:2026–2032.
Aoki, Y., Wada, O., Urata, G., Takaku, F., and Nakao, K., 1971, Purification and some properties of δ-aminolevulinate (ALA) synthetase in rabbit reticulocytes, Biochem. Biophys. Res. Comm. 42:568–575.
Aoki, Y., Urata, G., Takaku, F., and Katsunuma, N., 1975, A new protease inactivating δ-aminolevulinic acid synthetase in mitochondria of human bone marrow, Biochem. Biophys. Res. Comm. 65:567–574.
Astrup, E. G., 1978, Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria, Clin. Sci. Mol. Med. 54:251–256.
Balcerzak, S. P., Westerman, M. P., Heinle, E. W., and Taylor, F. H., 1968, Measurement of iron stores using deferoxamine, Ann. Intern. Med. 68:518–525.
Barnes, H. D., and Whittaker, N., 1965, Hereditary coproporphyria with acute intermittent manifestations, Br. Med. J. ii:1102–1104.
Barnes, R., Jones, M. S., Jones, O. T. G., and Porra, R. T., 1971, Ferrochelatase and δ-aminolaevulinate synthetase in brain, heart, kidney and liver of normal and porphyric rats. The induction of δ-aminolaevulinate synthetase in kidney cytosol and mitochondria by allylisopropylacetamide, Biochem. J. 124:633–637.
Battersby, A. R., Fookes, C. J. R., Matcham, G. W., and McDonald, E., 1979, Order of assembly of the four pyrrole rings during biosynthesis of the natural porphyrins, J. C. S. Chem. Comm. 539–541.
Batlle, A. M. del C., Benson, A., and Rimington, C., 1965, Purification and properties of coproporphyrinogenase, Biochem. J. 97:731–740.
Batlle, A. M. del C., de Xifra, E. A. W., Stella, A. M., Bustos, N., and With, T. K., 1979, Studies on porphyrin biosynthesis and the enzymes involved in bovine congenital erythropoietic porphyria, Clin. Sci. 57:63–70.
Beale, S. I., and Castelfranco, P. A., 1974, The biosynthesis of δ-aminolevulinic acid in higher plants. II. Formation of 14C-δ-aminolevulinic acid from labeled precursors in greening plant tissues, Plant Physiol. 53:297–303.
Beale, S. I., Gough, S. P., and Granick, S., 1975, Biosynthesis of δ-aminolevulinic acid from the intact carbon skeleton of glutamic acid in greening barley, Proc. Natl. Acad. Sci. USA 72:2719–2723.
Beauvais, P., Klein, M. L., Denave, L., and Martel, C., 1976, Porphyrie aigue intermittente, Arch. Franç. Ped. 33:987–992.
Becker, D. M., Viljoen, J. D., Katz, J., and Kramer, S., 1977, Reduced ferrochelatase activity: A defect common to porphyria variegata and protoporphyria, Br. J. Haemat. 36:171–179.
Becker, F. T., 1965, Porphyria cutanea tarda induced by estrogens, Arch. Dermatol. 92:252–256.
Benedetto, A. V., Kushner, J. P., and Taylor, J. S., 1978, Porphyria cutanea tarda in three generations of a single family, N. Engl. J. Med. 298:358–362.
Berger, H., and Goldberg, A., 1955, Hereditary coproporphyria, Brit. Med. J. ii:85–88.
Berman, J., Friedmann, B., and Brousil, J., 1963, Survival of erythrocytes in porphyria cutanea tarda (in Czech), Vnitř. Lěk. 9:336 [cited from Turnbull (1971)].
Bevan, D. R., Bodlaender, P., and Shemin, D., 1980, Mechanism of porphobilinogen synthase. Requirement of Zn2+ for enzyme activity, J. Biol. Chem. 255:2030–2035.
Bickers, D. R., Pathak, M. A., and Magnus, I. A., 1979, The porphyrias, in: Dermatology in General Medicine (T. B. Fitzpatrick, A. Z. Eisen, K. Wolff, I. M. Friedberg, and K. F. Austen, eds.), Second Ed., pp. 1072–1105, McGraw-Hill, New York.
Birchfield, R. I., and Cowger, M. L., 1966, Acute intermittent porphyria with seizures. Anticonvulsant medication-induced metabolic changes, Am. J. Dis. Child. 112:561–565.
Bird, T. D., Hamernyik, P., Nutter, J. Y., and Labbe, R. F., 1979, Inherited deficiency of delta-aminolevulinic acid dehydratase, Am. J. Hum. Genet. 31:662–668.
Birkett, D. A., Garratts, M., and Stevenson, D. J., 1969, Phototoxic bullous eruptions due to nalidixic acid, Br. J. Dermatol. 81:342–344.
Bishop, D. F., 1976, Differentiation between isozymes of guinea pig δ-aminolevulinate synthetase by affinity chromatography, Fed. Proc. 35:1658.
Bissell, D. M., and Hammaker, L. E., 1976a, Cytochrome P-450 heme and the regulation of hepatic heme oxygenase activity, Arch. Biochem. Biophys. 176:91–102.
Bissell, D. M., and Hammaker, L. E., 19766, Cytochrome P-450 heme and the regulation of δ-aminolevulinic acid synthetase in the liver, Arch. Biochem. Biophys. 176:103–112.
Bleiberg, J., Wallen, M., Brodkin, R., and Applebaum, I. L., 1964, Industrially acquired porphyria, Arch. Dermatol. 89:793–797.
Blekkenhorst, G., Pimstone, N. R., and Eales, L., 1976a, Porphyria cutanea tarda in South Africa: The metabolic basis of disordered haem biosynthesis, in: Porphyrins in Human Diseases (M. Doss, ed.), pp. 299–311, Karger, Basel.
Blekkenhorst, G. H., Pimstone, N. R., Webber, B. L., and Eales, L., 1976b, Hepatic haem metabolism in porphyria cutanea tarda (PCT): Enzymatic studies and their relation to liver ultrastructure, Ann. Clin. Res. 8 (Suppl. 17): 108–121.
Bloomer, J. R., 1980, Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts, J. Clin. Invest. 65:321–328.
Bloomer, J. R., Brenner, D. A., and Mahoney, M. J., 1977, Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyria, J. Clin. Invest. 60:1354–1361.
Bogorad, L., 1958a, The enzymatic synthesis of porphyrins from porphobilinogen. I. Uroporphyrin I, J. Biol. Chem. 233:501–509.
Bogorad, L., 1958b, The enzymatic synthesis of porphyrins from porphobilinogen. II. Uroporphyrin III, J. Biol. Chem. 233:510–515.
Bonkowsky, H. L., Tschudy, D. P., Collins, A., Doherty, J., Bossenmaier, I., Cardinal, R., and Watson, C. J., 1971, Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin, Proc. Natl. Acad. Sci. USA 68:2725–2729.
Bonkowsky, H. L., Bloomer, J. R., Ebert, P. S., and Mahoney, M. J., 1975a, Heme synthase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts, J. Clin. Invest. 56:1139–1148.
Bonkowsky, H. L., Tschudy, D. P., Weinbach, E. C., Ebert, P. S., and Doherty, J. M., 1975b, Porphyrin synthesis and mitochondrial respiration in acute intermittent porphyria: Studies using cultured human fibroblasts, J. Lab. Clin. Med. 85:93–102.
Bornstein, J. C., Pickett, J. B., and Diamond, I., 1979, Inhibition of the evoked release of acetylcholine by the porphyrin precursor δ-aminolevulinic acid, Ann. Neurol. 5:94–96.
Borst, M. and Königsdorfer, H., Jr., 1929, Untersuchungen über Porphyrie mit besonderer Berücksichtigung der Porphyria congenita, Hirzel, Leipzig.
Bottomley, S. S., Tanaka, M., and Everett, M. A., 1975, Diminished erythroid ferrochelatase activity in protoporphyria, J. Lab. Clin. Med. 86:126–131.
Bradlow, H. L., Gillette, P. N., Gallagher, T. F., and Kappas, A., 1973, Studies in porphyria. II. Evidence for a deficiency of steroid Δ4–5α reductase activity in acute intermittent porphyria, J. Exp. Med. 138:754–763.
Brennan, M. J. W., and Cantrell, R. C., 1979, δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptors, Nature 280:514–515.
Brenner, D. A., and Bloomer, J. R., 1979, The enzymatic defect in variegate porphyria, Clin. Res. 27:274a.
Brenner, D. A., and Bloomer, J. R., 1980, The enzymatic defect in variegate porphyria. Studies with human cultured skin fibroblasts, N. Engl. J. Med. 302:765–769.
Briggs, D., Condie, L., Sedman, R., and Tephly, T., 1976, δ-Aminolevulinic acid synthetase in the heart, J. Biol. Chem. 251:4996–5001.
Brivet, F., Drueke, T., Guillemette, J., 1978, Porphyria cutanea tarda-like syndrome in hemodialysed patients, Nephron 20:258–266.
Brockelhurst, D., 1978, Low-cost uroporphyrinogen I synthase screening for acute intermittent porphyria, Clin. Chem. 24:730–731.
Brodie, M. J., Moore, M. R., Thompson, G. G., and Goldberg, A., 1977a, The treatment of acute intermittent porphyria with laevulose, Clin. Sci. Mol. Med. 53:365–371.
Brodie, M. J., Thompson, G. G., Moore, M. R., Beattie, A. D., and Goldberg, A., 1977b, Hereditary coproporphyria, Quart. J. Med. 46:229–241.
Brodie, M. J., Moore, M. R., Thompson, G. G., Goldberg, A., and Holti, G., 1978, Haem biosynthesis in peripheral blood in erythropoietic protoporphyria, Clin. Exp. Dermatol. 2:381–388.
Brooker, J. D., May, B. K., and Elliott, W. H., 1980, Synthesis of δ-aminolevulinate synthase in vitro using hepatic mRNA from chick embryos with induced porphyria, Eur. J. Biochem. 106:17–24.
Brunsting, L. A., Mason, H. L., and Aldrich, R. A., 1951, Adult form of chronic porphyria with cutaneous manifestations: Report of 17 additional cases, J. Am. Med. Assoc. 146:1207.
Bugany, H., Flothe, L., and Weser, U., 1971, Kinetics of metal chelatase of rat liver mitochondria, FEBS Lett. 13:92–94.
Burry, J. N., and Lawrence, J. R., 1976, Phototoxic blisters from high furosemide dosage, Br. J. Dermatol. 99:445–449.
Cam, C., and Nigogosyan, G., 1963, Acquired toxic porphyria cutanea tarda due to hex-achlorobenzene. Report of 348 cases caused by this fungicide, J. Am. Med. Assoc. 183:88–91.
Canivet, J., and Pelhard-Considère, M., 1958, Étude de l’hémolyse dans deux cas de porphyria congénitale, Rev. Fr. Etud. Clin. Biol. 3:27–32.
Carlson, R. E., Dolphin, D., and Bernstein, M., 1978, Copper coproporphyrin excretion in familial coproporphyria, Clin. Chem. 24:2009–2012.
Chalmers, J. N. M., Gillam, A. E., and Kench, J. E., 1940, Porphyrinuria. In a case of industrial methyl chloride poisoning, Lancet ii:806–807.
Chatterjea, J. B., 1964, Erythropoietic porphyria, Blood 24:806–807.
Cheh, A., and Neilands, J. B., 1973, Zinc, an essential metal ion for beef liver δ-aminole-vulinate dehydratase, Biochem. Biophys. Res. Comm. 55:1060–1063.
Chu, T. C., and Chu, E. J.-H., 1962, Porphyrins from congenitally porphyric (pink-tooth) cattle, Biochem. J. 83:318–325.
Chu, T. C., and Chu, E. J.-H., 1967, Porphyrin patterns in different types of porphyria, Clin. Chem. 13:371–387.
Clare, N. T., and Stephens, E. H., 1944, Congenital porphyria in pigs, Nature 153:252–253.
Clark, K. G. A., and Nicholson, D. C., 1971, Erythrocyte protoporphyrin and iron uptake in erythropoietic protoporphyria, Clin. Sci. 41:363–370.
Coleman, D. L., 1966, Purification and properties of δ-aminolevulinate dehydratase from tissues of two strains of mice, J. Biol. Chem. 241:5511–5517.
Condie, L. W., Tephly, T. R., and Baron, J., 1976a, Studies on heme synthesis in the rat adrenal, Ann. Clin. Res. 8 (suppl. 17):83–88.
Condie, L. W., Baron, J., and Tephly, T. R., 1976b, Studies on adrenal δ-aminolevulinic acid synthetase, Arch. Biochem. Biophys. 172:123–129.
Connon, J. J., and Turkington, V., 1968, Hereditary coproporphyria, Lancet ii:263–264.
Cookson, G. H., and Rimington, C., 1954, Porphobilinogen, Biochem. J. 57:476–484.
Copeman, P. W. M., Cripps, D. J., and Summerly, R., 1966, Cutaneous hepatic porphyria and oestrogens, Br. Med. J. i:461–463.
Cornford, P., 1964, Transformation of porphobilinogen into porphyrins by preparations from human erythrocytes, Biochem. J. 91:64–73.
Cram, D. L., Epstein, J. H., and Tuffanelli, D. L., 1973, Lupus erythematosus and porphyria: Coexistence in seven patients, Arch. Dermatol. 108:779–784.
Cripps, D. J., and MacEachern, W. N., 1971, Hepatic and erythropoietic porphyria, Arch. Pathol. 91:497–505.
Cripps, D. J., Hawgood, R. S., and Magnus, I. A., 1966, Iodine tungsten fluorescence microscopy for porphyrin fluorescence. A study on erythropoietic protoporphyria, Arch. Dermatol. 93:129–134.
Cutler, M. G., Dick, J. M., and Moore, M. R., 1978, Effect of delta-aminolevulinic acid on frog nerve-muscle function, Life Sci. 23:2233–2238.
Danby, C. W. E., Koval, A., and Wyllie, J., 1966, Acquired porphyria cutanea tarda: Two cases treated by repeated phlebotomies, Can. Med. Assoc. J. 94:1358–1359.
Dean, G., 1963, Prevalence of the porphyrias, S. Afr. J. Lab. Clin. Med. 9:145–151.
Dean, G., 1971, The Porphyrias: A Story of Inheritance and Environment, Second edn., Pitman Medical, London.
Dean, G., 1978, Porphyria: Cutanea tarda or variegata?, N. Engl. J. Med. 298:1317.
Dean, G., and Barnes, H. D., 1959, Porphyria in Sweden and South Africa, S. Afr. Med. J. 33:246–253.
Dean, G., Kramer, S., and Lamb, P., 1969, Coproporphyria, S. Afr. Med. J. 43:138–142.
De Goeij, A. F. P. M., Christianse, K., and van Steveninck, I., 1975, Decreased haem synthetase activity in blood cells of patients with erythropoietic protoporphyria, Eur. J. Clin. Invest. 5:397–400.
De Leo, V. A., Poh-Fitzpatrick, M., Matthews-Roth, M., and Harber, L. C., 1976, Erythropoietic protoporphyria. Ten years experience, Am. J. Med. 60:8–22.
DeMatteis, F., 1973, Drug interactions in experimental hepatic porphyria. A model for the exacerbation by drug of human variegate porphryia, Enzyme 16:266–275.
DeMatteis, F., 1978, Loss of microsomal components in drug induced liver damage, in cholestasis and after administration of chemicals which stimulate heme catabolism, Pharmacol. Ther. A. 2:693–725.
DeMatteis, F., and Cantoni, L., 1979, Alteration of the porphyrin nucleus of cytochrome P-450 caused in the liver by treatment with allyl-containing drugs. Is the modified porphyrin N-substituted? Biochem. J. 183:99–103.
DeMatteis, F., and Gibbs, A. H., 1980, Drug-induced conversion of liver haem into modified porphyrins. Evidence for two classes of products. Biochem. J. 187:285–288.
DeMatteis, F., Abbritti, G., and Gibbs, A., 1973, Decreased liver activity of porphyrin-metal chelatase in hepatic porphyria caused by 3,5-diethoxycarbonyl-l,4-dihydrocol-lidine. Studies in rats and mice, Biochem. J. 134:717–727.
DeMatteis, F., Gibbs, A. H., and Tephly, T. A., 1980, Inhibition of protohaem ferro-lyase in experimental porphyria. Isolation and partial characterization of a modified porphyrin inhibitor. Biochem. J. 188:145–152.
Derrien, E., 1924, Note préliminaire sur quelques faits nouveaux pour l’histoire naturelle des porphyrines animales, Compt. Rend. Soc. Biol. 91:634–636.
Derrien, E., and Turchini, J., 1924, Sur l’accumulation d’une porphyrine dans la glande de Harder des Rongeurs du genre mus et sur son mode d’excrétion. C. R. Soc. Biol. 91:637–639.
Derrien, E., and Turchini, J., 1926, Sur la biologie des porphyrines naturelles, Bull. Soc. Chim. Biol. 8:218–219.
De Verneuil, H., Aitken, G., and Nordmann, Y., 1978, Familial and sporadic porphyria cutanea. Two different diseases, Hum. Genet. 44:145–151.
DeVerneuil, H., Grandchamp, B., and Nordmann, Y., 1980, Some kinetic properties of human red cell uroporphyrinogen decarboxylase, Biochim. Biophys. Acta 611:174–186.
Doss, M., and Tiepermann, R., 1978, Uroporphyrinogen-Synthase in Erythrocyten bei akuter intermittierender Porphyrie: Neue pathobiochemische Aspekte, J. Clin. Chem. Clin. Biochem. 16:111–118.
Doss, M., Meinhof, W., and Look, D., 1971, Porphyrins in liver and urine in acute intermittent and chronic hepatic porphyrias, S. Afr. J. Lab. Clin. Med. 17:50–56.
Doss, M., von Tiepermann, R., Schneider, J., and Schmid, H., 1977, New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation, Klin. Wochensch. 57:1123–1127.
Dowdle, E. B., Mustard, P., and Eales, L., 1967, δ-Aminolaevulinic acid synthetase activity in normal and porphyric human livers, S. Afr. Med. J. 2:1093–1096.
Dowdle, E., Goldswain, P., Spong, N., and Eales, L., 1970, The pattern of porphyrin isomer accumulation and excretion in symptomatic porphyria, Clin. Sci. 39:147–158.
Doyle, D., and Schimke, R. T., 1969, The genetic and developmental regulation and hepatic δ-aminolevulinate dehydratase in mice, J. Biol. Chem. 244:5449–5459.
Drummond, G. S., and Kappas, A., 1979, Manganese and zinc blockade of enzyme induction: Studies with microsomal heme oxygenase, Proc. Natl. Acad. Sci. USA 76:5331–5335.
Druyan, R., DeBernard, B., and Rabinowitz, M., 1969, Turnover of cytochromes labeled with δ-aminolevulinic acid—3H in rat liver, J. Biol. Chem. 244:5874–5878.
Eales, L., 1963, Porphyria as seen in Cape Town: A survey of 250 patients and some recent studies, S. Afr. J. Lab. Clin. Med. 9:151–161.
Eales, L., and Grosser, Y., 1971, The porphyrin peptides: Practical implications, S. Afr. J. Lab. Clin. Med. 17:160–163.
Eales, L., and Linder, G. C., 1962, Porphyria—the acute attack. An analysis of 80 cases, S. Afr. Med. J. 36:284–292.
Eales, L., Dowdle, E. B., Saunders, S. J., and Sweeney, G. D., 1963, The diagnostic importance of faecal porphyrins in the differentiation of the porphyrias. II. Values in the cutaneous porphyrias, S. Afr. J. Lab. Clin. Med. 9:126–137.
Eales, L., Dowdle, E. B., Levey, M. J., and Sweeney, G. D., 1966a, The diagnostic importance of faecal porphyrins in the differentiation of the porphyrias. III. South African genetic porphyria (variegate porphyria)—the acute attack, S. Afr. Med. J. 40:380–382.
Eales, L., Levey, M. J., and Sweeney, G. D., 1966, The place of screening tests and quantitative investigations in the diagnosis of the porphyrias, with particular reference to variegate and symptomatic porphyria, S. Afr. Med. J. 40:63–71.
Eales, L., Sears, W. G., King, K. B., Levey, M. J., and Rimington, C., 1972, Symptomatic porphyria in a case of Felty’s syndrome. I. Clinical and routine biochemical studies, Clin. Chem. 18:459–461.
Eales, L., Grosser, T., and Sears, W. G., 1975, The clinical biochemistry of the human hepatocutaneous porphyrias in the light of recent studies of newly identified intermediates and porphyrin derivatives, Ann. N.Y. Acad. Sci. 244:441–471.
Ebert, P. S., Hess, P. A., Frykholm, B. C., and Tschudy, D. P., 1979, Succinylacetone, a potent inhibitor of heme biosynthesis: Effect on cell growth, heme content and δ-aminolevulinic acid dehydratase activity of malignant murine erythroleukemia cells, Biochem. Biophys. Res.Comm. 88:1382–1390.
Eida, K., Kubota, N., Nishigaki, T., and Kikutani, M., 1975, Harderian gland. V. Effect of dietary pantothenic acid deficiency on porphyrin biosynthesis in Harderian gland of rats, Chem. Pharm. Bull. 23:1–4.
Eisen, H., Keppel-Ballivet, F., Georgopoulos, C. P., Sassa, S., Granick, J., Pragnell, L, and Ostertag, W., 1978, Biochemical and genetic analysis of erythroid differentiation in Friend-virus-transformed murine erythroleukemia cells, in: Differentiation of Normal and Neoplastic Hematopoietic Cells (B. Clarkson, P. A. Marks, and J. E. Till, eds.), pp. 277–294, Cold Spring Harbor Conference on Cell Proliferation, Vol. 5, Cold Spring Harbor Lab.
Elder, G. H., 1972, Identification of a group of tetracarboxylate porphyrins containing one acetate and three propionate beta-substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria, and from rats with porphyria due to hexachlorbenzene, Biochem. J. 126:877–891.
Elder, G. H., 1975, Differentiation of porphyria cutanea tarda symptomatica from other types of porphyria by measurement of isocoproporphyrin in faeces, J. Clin. Pathol. 28:601–607.
Elder, G. H., 1977, Porphyrin metabolism in porphyria cutanea tarda, Sem. Hematol. 14:227–242.
Elder, G. H., and Tovey, J. A., 1977, Uroporphyrinogen decarboxylase activity of human tissues, Biochem. Soc. Trans. 5:1470–1472.
Elder, G. H., Gray, C. H., and Nicholson, D. C., 1972, The porphyrias: A review, J. Clin. Pathol. 25:1013–1033.
Elder, G. H., Magnus, I. A., Handa, F., and Doyle, M., 1974, Faecal “X porphyrin” in the hepatic porphyrias, Enzyme 17:29–38.
Elder, G. H., Evans, J. O., and Matlin, S. A., 1976a, The effect of the porphyrinogenic compound, hexachlorobenzene, on the activity of hepatic uroporphyrinogen decarboxylase in the rat, Clin. Sci. Mol. Med. 51:71–80.
Elder, G. H., Evans, J. O., Thomas, N., Cox, R., Brodie, M. J., Moore, M. R., Goldberg, A., and Nicholson, D. C., 1976, The primary enzyme defect in hereditary coproporphyria, Lancet ii: 1217–1219.
Elder, G. H., Lee, G. B., and Tovey, J. A., 1978, Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda, N. Engl. J. Med. 299:274–278.
Epstein, J. H., and Pinski, J. B., 1965, Porphyria cutanea tarda. Association with abnormal iron metabolism, Arch. Dermatol. 92:362–366.
Epstein, J. H., and Redeker, A. G., 1965, Porphyria cutanea tarda symptomatica (PCT-S). A study of the effect of phlebotomy therapy, Arch. Dermatol. 92:286–290.
Epstein, J. H., Tuffanelli, D. L., Seibert, J. S., and Epstein, W. L., 1976, Porphyria-like cutaneous changes induced by tetracycline hydrochloride photosensitization, Arch. Dermatol. 112:661–666.
Eriksen, L., and Eriksen, N., 1974, Porphyrin distribution and porphyrin excretion in human congenital erythropoietic porphyria, Scand. J. Clin. Lab. Invest. 33:323–332.
Eriksen, L., and Seip, M., 1973, Congenital erythropoietic porphyria. A family study, Clin. Genet. 4:166–172.
Estabrook, R. W., Martinez-Zedillo, G., Young, S., Peterson, J. A., and McCarthy, J., 1975, The interaction of steroids with liver microsomal cytochrome P-450—a general hypothesis, J. Steroid Biochem. 6:419–425.
Falk, J. E., 1964, Porphyrins and Metalloporphyrins. Their General, Physical and Coordination Chemistry, and Laboratory Methods, Elsevier Publishing, Amsterdam.
Feldman, D. S., Levere, R. D., Lieberman, J. S., Cardinal, R. A., and Watson, C. J., 1971, Presynaptic neuromuscular inhibition by porphobilinogen and porphobilin, Proc. Natl. Acad. Sic. USA 68:383–386.
Felsher, B. F., and Kushner, J. P., 1977, Hepatic siderosis and porphyria cutanea tarda: Relation of iron excess to the metabolic defect, Semin. Hemat. 14:243–251.
Felsher, B. F., Norris, M. E., and Shih, J. C., 1978, Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria, New Engl. J. Med. 299:1095–1098.
Fikentscher, R., 1935, Über Porphyrinbefunde im Serum von Feten und Neugeborenen, Klin. Wschr. 14:569–571.
Finelli, V. N., Murthy, L., Peirano, W. B., and Petering, H. G., 1974, δ-Aminolevulinate dehydratase, a zinc dependent enzyme, Biochem. Biophys. Res. Comm. 60:1418–1424.
Finelli, V. N., Klauder, D. S., Karaffa, M. A., and Petering, H. G., 1975, Interaction of zinc and lead on δ-aminolevulinate dehydratase, Biochem. Biophys. Res. Commun. 65:303–311.
Fischer, H., and Haarer, E., 1932, Über Uroporphyrin aus Muschelschalen, Z. physiol. Chem. 204:101–104.
Fischer, H., and Hilger, J., 1923, Zur Kenntnis der natürlichen Porphyrine. II. Über das Turacin, Z. physiol. Chem. 128:167–174.
Flyger, V., and Levin, E. Y., 1977, Congenital erythropoietic porphyria, Am. J. Pathol. 87:269–272.
Fourie, P. J. J., 1936, The occurrence of congenital porphyrinuria (pink tooth) in cattle in South Africa (Swaziland) Onderstepoort, J. Vet. Sci. Animal Indust. 2:535–565.
Freshney, R. I., and Paul, J., 1971, The activities of three enzymes of heme synthesis during hepatic erythropoiesis in the mouse embryo, J. Embryol. Exp. Morphol. 26:313–322.
Frydman, R. B., and Feinstein, G., 1974, Studies on porphobilinogen deaminase and uroporphyrinogen III cosynthase from human erythrocytes, Biochim. Biophys. Acta 350:358–373.
Frydman, B., Frydman, R. B., and Tomaro, M. L., 1973a, Pyrrolooxygenases: A new type of oxygenases, Mol. Cell. Biochem. 2:121–136.
Frydman, R. B., Tomaro, M. L., Wanschelbaum, A., Andersen, E. M., Awruch, J., and Frydman, B., 1973b, Porphobilinogen oxygenase from wheat germ: Isolation, properties and products formed, Biochemistry 12:5253–5262.
Frydman, R. B., Tomaro, M. L., Frydman, B., and Wanschelbaum, A., 1975, Porphobilinogen excretion in chemical induced porphyria. Reversal by induction of porphobilinogen oxygenase, FEBS Lett. 51:206–210.
Gajdos, A., Weil, J., Gajdos-Török, M., and Coupry, A., 1969, Une nouvelle variété de Porphyrie, la coproporphyria heréditaire mixte ou variegata, Rev. Franc. Études Clin. Biol. 14:279–282.
Gassman, M., Pluscec, J., and Bogorad, L., 1966, δ-Aminolevulinic acid transaminase from Chlorella and Phaseolus, Plant Physiol. 41(Suppl.):xiv.
Gassman, M., Pluscec, J., and Bogorad, L., 1968, δ-Aminolevulinic acid transaminase in Chlorella vulgaris, Plant Physiol. 43:1411–1414.
Gayathri, A. K., Rao, M. R. S., and Padmanaban, G., 1973, Studies on the induction of δ-aminolevulinic acid synthetase in mouse liver, Arch. Biochem. Biophys. 155:299–306.
Gentz, J., Jagenburg, R., and Zetterström, R., 1965, An inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal tubular defects (de Toni-Fanconi syndrome), J. Pediatr. 66:670–696.
Gentz, J., Lindblad, B., Lindstedt, S., Levy, L., Shasteen, W., and Zetterström, R., 1967, Dietary treatment in tyrosinemia (tyrosinosis), Am. J. Dis. Child. 113:31–37.
Gentz, J., Heinrich, J., Lindbiad, B., Lindstedt, S., and Zetterström, R., 1969a, Enzymatic studies in a case of hereditary tyrosinemia with hepatoma, Acta Paed. Scand. 58:393–396.
Gentz, J., Johansson, S., Lindbiad, B., Lindstedt, S., and Zetterström, R., 1969, Excretion of δ-aminolevulínic acid in hereditary tyrosinemia, Clin. Chim. Acta 23:257–263.
Giddens, W. E., Jr., Labbe, R. F., Swango, L. J., and Padgett, G. A., 1975, Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic and biochemical studies, Am. J. Pathol. 80:367–380.
Gilchrest, B., Rowe, J. W., and Mihm, M. C., Jr., 1975, Bullous dermatosis of hemodialysis, Ann. Intern. Med. 83:480–483.
Glenn, B. L., Glenn, H. G., and Omtvedt, I. T., 1968, Congenital porphyria in the domestic cat (Felis catus): Preliminary investigations on inheritance pattern, Am. J. Vet. Res. 29:1653–1657.
Goldberg, A., 1959, Acute intermittent porphyria. A study of 50 cases, Quart. J. Med. 28:183–209.
Goldberg, A., and Rimington, C., 1962, Diseases of Porphyrin Metabolism, Charles C. Thomas, Springfield, Ill.
Goldberg, A., Rimington, C., and Lochhead, A., 1967, Hereditary coproporphyria, Lancet i:632–636.
Goldberg, A., Moore, M. R., Beattie, A. D., Hall, P. E., McCallum, J., and Grant, J. K., 1969, Excessive urinary excretion of certain porphyrinogenic steroids in human acute intermittent porphyria, Lancet i:115–118.
Goldberg, L., and St. John, A. C., 1976, Intracellular protein degradation in mammalian and bacterial cells: Part 2, Ann. Rev. Biochem. 45:747–803.
Goldstein, J. A., Hickman, P., Bergman, H., and Vos, J. G., 1973, Hepatic porphyria induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin, Biochem. Biophys. Res. Comm. 6:919–928.
Goldstein, J. A., McKinney, J. D., Lucier, G. W., Hickman, P., Bergman, H., and Moore, J. A., 1976, Toxicological assessment of hexachlorobiphenyl isomers and 2,3,7,8-te-trachlorodibenzofuran in chicks. II. Effects on drug metabolism and porphyrin accumulation, Toxicol. Appl. Pharm. 36:81–92.
Goldstein, J. A., Friesen, M., Linder, R. E., Hickman, P., Hass, J. R., and Bergman, H., 1977, Effects of pentachlorophenol on hepatic drug-metabolizing enzymes and porphyria related to contamination with chlorinated dibenzo-p-dioxins and dibenzofurans, Biochem. Pharm. 26:1549–1557.
Grandchamp, B., and Nordmann, Y., 1977, Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria, Biochem. Biophys. Res. Comm. 74:1089–1095.
Grandchamp, B., Phung, N., Grelier, M., and Nordmann, Y., 1976, The spectrophotometric determination of uroporphyrinogen I synthase activity, Clin. Chim. Acta 70:113–118.
Grandchamp, B., Phung, N., and Nordmann, Y., 1977, Homozygous case of hereditary coproporphyria, Lancet ii: 1348–1349.
Granick, J. L., and Sassa, S., 1978, Hemin control of heme biosynthesis in mouse Friend-virus transformed erythroleukemia cells in culture, J. Biol. Chem. 253:5402–5406.
Granick, J. L., Sassa, S., Granick, S., Levere, R. D., and Kappas, A., 1973, Studies in lead poisoning. II. Correlations between the ratio of activated and inactivated δ-ami-nolevulinic acid dehydratase of whole blood and the blood lead level, Biochem. Med. 8:149–159.
Granick, S., 1950, The structural and functional relationships between heme and chlorophyll, Harvey Lect. 44:220–245.
Granick, S., 1966, The induction in vitro of the synthesis of δ-aminolevulinic acid synthetase in chemical porphyria. A response to certain drugs, sex hormones and foreign chemicals, J. Biol. Chem. 241:1359–1375.
Granick, S., and Kappas, A., 1967, Steroid induction of porphyrin synthesis in liver cell culture. I. Structural basis and possible physiological role in the control of heme formation, J. Biol. Chem. 242:4587–4593.
Granick, S., and Mauzerall, D., 1958a, Enzymes of porphyrin synthesis in red blood cells, Ann. N.Y. Acad. Sci. 75:115–121.
Granick, S., and Mauzerall, D., 1958b, Porphyrin biosynthesis in erythrocytes. II. Enzymes converting δ-aminolevulinic acid to coproporphyrinogen, J. Biol. Chem. 232:1119–1140.
Granick, S., and Mauzerall, D., 1961, The metabolism of heme and chlorophyll, in: Metabolic Pathways, Vol. 2 (D. M. Greenberg, ed.), pp. 525–616, Academic Press, New York.
Granick, S., and Sassa, S., 1971, δ-Aminolevulinic acid synthetase and the control of heme and chlorophyll synthesis, in: Metabolic Regulation, Vol. 5 (H. J. Vogel, ed.), pp. 77–141, Metabolic Pathways. Academic Press, New York.
Granick, S., and Urata, G., 1963, Increase in activity of δ-aminolevulinic acid synthetase in liver mitochondria induced by feeding of 3,5-dicarbethoxy-l,4-dihydrocollidine, J. Biol. Chem. 238:821–827.
Granick, S., Sinclair, P., Sassa, S., and Grieninger, G., 1975, Effects by heme, insulin, and serum albumin on heme and protein synthesis in chick embryo liver cells cultured in a chemically defined medium, and a spectrofluorometric assay for porphyrin composition, J. Biol. Chem. 250:9215–9225.
Gray, C. H., 1952, Isotope studies in porphyria, Br. Med. Bull. 8:229–233.
Gray, C. H., and Neuberger, A., 1952, Effect of splenectomy in a case of congenital porphyria, Lancet 1:851–854.
Gray, C. H., Muir, H., and Neuberger, A., 1950a, Studies in congenital porphyria. 3. The incorporation of 15N into the haem and glycine of haemoglobin, Biochem. J. 47:542–548.
Gray, C. H., Neuberger, A., and Sneath, P. H. A., 1950b, Studies in congenital porphyria. 2. Incorporation of 15N in the stercobilin in the normal and in the porphyric, Biochem. J. 47:87–92.
Gray, C. H., Kulczycka, A., Nicholson, D. C., Magnus, I. A., and Rimington, C., 1964, Isotope studies on a case of erythropoietic protoporphyria, Clin. Sci. 26:7–15.
Griffon-Euvrard, S., Thivolet, J., and Laurent, G., Calemard, E., Gaillemin, J., Perrot, H., and Ortonne, J. P., 1977, Recherche de la pseudo-porphyrie cutanée tardive chez 100 hémodialyses, Dermatologica 155:193–199.
Grinstein, M., Aldrich, R. A., Hawkinson, V., and Watson, C. J., 1949, An isotopic study of porphyrin and hemoglobin metabolism in a case of porphyria, J. Biol. Chem. 179:983–984.
Gross, S., 1964, Hematologic studies on erythropoietic porphyria: A new case with severe hemolysis, chronic thrombocytopenia and folic acid deficiency, Blood 23:762–775.
Grosser, Y., and Eales, L., 1973, Patterns of fecal porphyrin excretion in the hepatocuta-neous porphyrias, S. Afr. Med. J. 27:2162–2168.
Grossman, M. E., Bickers, D. R., Poh-Fitzpatrick, M. B., Deleo, V. A., and Harber, L. C., 1979, Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients, Am. J. Med. 67:277–285.
Haberman, H. F., Rosenberg, F., and Menon, I. A., 1975, Porphyria cutanea tarda: Comparison of cases precipitated by alcohol and estrogens, Can. Med. Assoc. J. 113:653–655.
Haeger-Aronson, B., 1963, Erythropoietic porphyria: A new type of inborn error of metabolism, Am. J. Med. 35:450–454.
Haeger-Aronson, B., and Krook, G., 1966, Erythropoietic protoporphyria. A study of known cases in Sweden, Acta Med. Scand. 245(Suppl.):48–55.
Haeger-Aronson, B., Stathers, G., and Swahn, G., 1968, Hereditary coproporphyria: Study of a Swedish family, Ann. Intern. Med. 69:221–227.
Haining, R. C., Cowger, M. L., Shurtleff, D. B., and Labbe, R. F., 1968, Congenital erythropoietic porphyria. I. Case report, special studies and therapy, Am. J. Med. 45:624–637.
Hällén, J., and Krook, H., 1963, Follow-up studies on an unselected ten-year material of 360 patients with liver cirrhosis in one community, Acta Med. Scand. 173:479–493.
Harber, L. C., and Bickers, D. R., 1975, The porphyrias: Basic science aspects, clinical diagnosis and management, in: The Year Book of Dermatology (F. D. Malkinson and R. W. Pearson, eds.), pp. 9–47, Year Book, Chicago.
Harris, M. Y., Mills, G. C., and Levin, W. C., 1966, Coexistent systemic lupus erythematosus and porphyria, Arch. Intern. Med. 117:425–428.
Hasegawa, E., Smith, C., and Tephly, T. R., 1970, Induction of hepatic mitochondrial ferrochelatase by phenobarbital, Biochem. Biophys. Res. Comm. 40:517–523.
Haskins, D., Stevens, A. R., Jr., Finch, S., and Finch, C. A., 1952, Iron metabolism. Iron stores in man as measured by phlebotomy, J. Clin. Invest. 31:543–547.
Hayashi, N., Yoda, B., and Kikuchi, G., 1969, Mechanism of allylisopropylacetamide-induced increase of δ-aminolevulinate synthetase in liver mitochondria. IV. Accumulation of the enzyme in the soluble fraction of rat liver, Arch. Biochem. Biophys. 131:83–91.
Heilmeyer, L., and Clotten, R., 1964, The erythropoietic porphyria, Acta Haematol. 31:137–149.
Heilmeyer, L., and Clotten, R., 1965, Die Störung der Porphyrinsynthese bei der Güntherschen Porphyria congenita, Acta Haematol. 34:65–71.
Heilmeyer, L. E., Clotten, R., Kerp, I., Merker, H., Parra, C. A., and Wetzel, H. P., 1963, Porphyria erythropoietica congenita Günther: Bericht über zwei Familien mit Erfassung der Merkmalsträger, Dtsch. Med. Wschr. 88:2449–2456.
Heilmeyer, L., Clotten, R., and Heilmeyer, L., Jr., 1966, Disturbances in Heme Synthesis (translated by M. Steiner), Charles C. Thomas, Springfield, Ill.
Herbert, F. K., 1966, Porphyrins excreted in various types of porphyria, Clin. Chim. Acta 13:19–30.
Hetherinton, G. W., Jetton, R. L., and Knox, J. M., 1970, The association of lupus erythematosus and porphyria, Br. J. Dermatol. 82:118–124.
Hickman, R., Saunders, S. J., and Eales, L., 1967, Treatment of symptomatic porphyria by venesection, S. Afr. Med. J. 41:456–460.
Higuchi, M., and Bogorad, L., 1975, The purification and properties of uroporphyrinogen I synthase and uroporphyrinogen III cosynthase. Interactions between the enzymes, Ann. N.Y. Acad. Sci. 244:401–418.
Hoare, D. S., and Heath, H., 1958, Intermediates in the biosynthesis of porphyrins from porphobilinogen by Rhodopseudomonas spheroides, Nature 181:1592–1593.
Hofstad, F., Seip, M., and Eriksen, L., 1973, Congenital erythropoietic porphyria with a hitherto undescribed porphyrin pattern, Acta Paed. Scand. 62:380–384.
Hourihane, D. O’B., and Weir, D. G., 1970, Suppression of erythropoiesis by alcohol, Br. Med. J. i:86–89.
Husquinet, H., Noirfalise, A., and Parent, M.-Th., 1978, Porphyria variegata: Etude d’une grande famille, J. Genet. Hum. 26:367–383.
Hutton, J. J., and Gross, S. R., 1970, Chemical induction of hepatic porphyria in inbred strains of mice, Arch. Biochem. Biophys. 141:284–292.
Ibrahim, N. G., Gruenspecht, N. R., and Freedman, M. L., 1978, Hemin feedback inhibition of reticulocyte δ-aminolevulinic acid synthetase and δ-aminolevulinic acid dehydratase, Biochem. Biophys. Res. Comm. 80:722–728.
Ibrahim, N. G., Lutton, J. D., and Levere, R. D., 1979, In vitro development of heme enzymes in erythroid colonies (EC): The role of heme oxygenase (HO), Blood 54:140a.
Ippen, H., 1961, Allgemein Symptome: der späten Hautporphyrie (Porphyria cutanea tarda) als Hinweise für deren Behandlung, Dtsch. Med. Wschr. 86:127–133.
Ippen, H., 1977, Treatment of porphyria cutanea tarda by phlebotomy, Sem. Hematol. 14:253–259.
Irving, R. A., Mainwaring, W. I. P., and Spooner, P. M., 1976, The regulation of haemoglobin synthesis in cultured chick blastoderms by steroid related to 5β-androstane, Biochem. J. 154:81–93.
Jackson, A. H., Sancovich, H. A., Ferramola, A. M., Evans, N., Games, D. E., Matlin, S. A., Elder, G. H., and Smith, S. G., 1975, Macrocyclic intermediates in the biosynthesis of porphyrins, Phil. Trans. Royal Soc. London B. 273:119–134.
Jaeger, A., Tempe, J. D., Geisler, F., Nordmann, Y., and Mantz, J. M., 1975, La copro-porphyrie héréditaire, Nouv. Presse Med. 4:2783–2787.
Jirásek, L., Kalensky, J., Kubec, K., Pazderova, J., and Lukás, E., 1976, Chlorakne, Porphyria cutanea tarda und andere Intoxikationen durch Herbizide, Hautarzt 27:328–333.
Jøergensen, S. K., and With, T. K., 1955, Congenital porphyria in swine and cattle in Denmark, Nature 176: 156–158.
Jørgensen, S. K., and With, T. K., 1963, Porphyria in domestic animals. Danish observations in pigs and cattle and comparison with human porphyria, Ann. N.Y. Acad. Sci. 104:701–709.
Johnson, A., and Jones, O. T. G., 1964, Enzymic formation of hemes and other metallo-porphyrins, Blochlm. Biophys. Acta 93:171–173.
Jones, K. G., and Sweeney, G. D., 1977, Association between induction of aryl hydrocarbon hydroxylase and depression of uroporphyrinogen decarboxylase activity, Res. Comm. Chem. Pathol. Pharmacol. 17:631–637.
Jones, M. S., and Jones, O. T. G., 1969, The structural organization of heme synthesis in rat liver mitochondria, Biochem. J. 113:507–514.
Jordan, P. M., and Seehra, J. S., 1980, Mechanism of action of 5-aminolevulinic acid dehydratase: Stepwise order of addition of the two molecules of 5-aminolevulinic acid in the enzymic synthesis of porphobilinogen, J. C. S. Chem. Comm. 240–242.
Kaneko, J. J., 1963, Erythrokinetics and iron metabolism in bovine porphyria erythropoie-tica, Ann. N.Y. Acad. Sci. 104:689–700.
Kang, E. S., and Gerald, P. S., 1970, Hereditary tyrosinemia and abnormal pyrrole metabolism, J. Pediatr. 77:397–406.
Kaplan, B. H., 1971, δ-Aminolevulinic acid synthetase from the particulate fraction of liver of porphyric rats, Biochim. Biophys. Acta 235:381–388.
Kaplowitz, N., Javitt, N., and Harber, L. C., 1968, Isolation of erythrocytes with normal protoporphyrin levels in erythropoietic protoporphyria, N. Engl. J. Med. 278:1077–1081.
Kappas, A., and Granick, S., 1968, Steroid induction of porphyrin synthesis in liver cell culture II. The effects of heme, uridine diphosphate glucuronic acid, and inhibitors of nucleic acid and protein synthesis on the induction process, J. Biol. Chem. 243:346–351.
Kappas, A., Song, C. S., Levere, R. D., Sachson, R. A., and Granick, S., 1968, The induction of δ-aminolevulinic acid synthetase in vivo in chick embryo liver by natural steroids, Proc. Natl. Acad. Sci. USA 61:509–513.
Kappas, A., Song, C. S., Sassa, S., Levere, R. D., and Granick, S., 1969, The occurrence of substances in human plasma capable of inducing the enzyme δ-aminolevulinate synthetase in liver cells, Proc. Natl. Acad. Sci. USA 64:557–564.
Kappas, A., Bradlow, H. L., Gillette, P. N., and Gallagher, T. F., 1972, Studies in porphyria. I. A defect in the reductive transformation of natural steroid hormones in the hereditary liver disease, acute intermittent porphyria, J. Exp. Med. 136:1043–1053.
Kappas, A., Sassa, S., Granick, S., and Bradlow, H. L., 1974, Endocrine-gene interaction in the pathogenesis of acute intermittent porphyria, in: Brain Dysfunction in Metabolic Disorders (F. Plum, ed.) (Res. Publ. Assoc. Nerv. Ment. Dis. 53:225–237).
Kappas, A., Bradlow, H. L., Bickers, D. R., and Alvares, A. P., 1977, Induction of a deficiency of steroid Δ4–5α-reductase activity in liver by a porphyrinogenic drug, J. Clin. Invest. 59:159–164.
Karibian, D., and London, I. M., 1965, Control of heme synthesis by feedback inhibition, Biochem. Biophys. Res. Comm. 18:243–249.
Kato, R., 1967, Effect of administration of 3-aminotriazole on the activity of microsomal drug metabolizing enzyme systems of rat liver, Jpn. J. Pharmacol. 17:56–64.
Kaufman, K., and Marver, H. S., 1970, The biochemical defects in two types of human hepatic porphyria, N. Engl. J. Med. 283:954–958.
Keczkes, K., and Farr, M., 1976, Bullous dermatosis of chronic renal failure, Br. J. Dermatol. 95:541–546.
Kench, J. D., Langley, F. A., and Wilkinson, J. F., 1953, Biochemical and pathological studies of congenital porphyria, Quart. J. Med. n.s. 22:285–294.
Kennedy, G. Y., 1975, Porphyrins in invertebrates, Ann. N.Y. Acad. Sci. 244:662–673.
Knudson, K. B., Sparberg, M., and Lecocq, F., 1977, Porphyria precipitated by fasting, N. Engl. J. Med. 277:350–351.
Korting, G. W., 1975, Über Porphyria-cutanea-tarda-artige Hautveränderungen bei Lang-zeithämodialysepatienten, Dermatologica 150:58–61.
Kramer, S., 1963, Iron metabolism in the porphyrias, S. Afr. J. Lab. Clin. Med. 9:283–287.
Kramer, S., Viljoen, E., Mayer, A. M., and Metz, J., 1965, The anemia of erythropoietic porphyria with the first description of the disease in an elderly patient, Br. J. Haematol. 11:666–675.
Kushner, J. P., and Barbuto, A. J., 1975, An inherited defect in porphyria cutanea tarda (PCT): Decreased uroporphyrinogen decarboxylase activity (urodecarb), Clin. Res. 23:403A.
Kushner, J. P., Steinmuller, D. P., and Lee, G. R., 1975, The role of iron in the pathogenesis of porphyria cutanea tarda. II. Inhibition of uroporphyrinogen decarboxylase, J. Clin. Invest. 56:661–667.
Kushner, J. P., Barbuto, A. J., and Lee, G. R., 1976, An inherited enzymatic defect in porphyria cutanea tarda. Decreased uroporphyrinogen decarboxylase activity, J. Clin. Invest. 58:1089–1097.
Labbe, R. F., and Hubbard, N., 1961, Metal specificity of the iron-protoporphyrin chelating enzyme from rat liver, Biochim. Biophys. Acta 52:130–135.
La Du, B. N., and Gjessing, L. R., 1978, Tyrosinosis and tyrosinemia, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds.), pp. 256–267, McGraw-Hill, New York.
Lamont, N. M., Hathorn, M., and Joubert, S. M., 1961, Porphyria in the African. A study of 100 cases, Quart. J. Med. n.s. 30:373–392.
Lange, C. E., Block, H., Veltman, G., and Doss, M., 1976, Urinary porphyrins among PVC workers, in: Porphyrins in Human Diseases (M. Doss, ed.), pp. 352–355, Basel, Kager.
Langelaan, D. E., Losowsky, M. S., and Toothill, C., 1970, Heme synthetase activity in human blood cells, Clin. Chim. Acta 27:453–459.
Langhof, M., Müller, H., and Rietschel, L., 1961, Untersuchungen zur familiären protoporphyrinämischen Lichturticaria, Arch. Klin. Exp. Dermatol. 212:506–518.
Langhof, H., Heilmeyer, R. C., and Rietschel, L., 1964, Die erythropoetische Protoporphyrie: Protoporphyrinämische Lichturticaria, Dtsch. Med. Wschr. 27:1289–1293.
Langhof, H., Franken, E., and Kluge, K., 1965, Kombinierte hereditäre Porphyria Heptica (Hereditäre Koproporphyrie), Hautarzt 16:101.
Larriza, P., 1962, The problem of erythropoietic porphyria in the light of the latest advances in biochemistry and morphology, Panminerva Med. 4:315–323.
Lemberg, M. R., 1954, Porphyrins in nature, Fortschr. Chem. Org. Naturst. 11:300–349.
Levere, R. D., 1966, Stilbesterol-induced porphyria: Increase in hepatic δ-aminolevulinic acid synthetase, Blood 28:569–572.
Levere, R. D., and Granick, S., 1965, Control of hemoglobin synthesis in the cultured chick blastoderm by δ-aminolevulinic acid synthetase: Increase in the rate of hemoglobin formation with δ-aminolevulinic acid, Proc. Natl. Acad. Sci. USA 54:134–137.
Levere, R. D., and Granick, S., 1967, Control of hemoglobin synthesis in the cultured chick blastoderm, J. Biol. Chem. 242:1903–1911.
Levere, R. D., Kappas, A., and Granick, S., 1967, Stimulation of hemoglobin synthesis in chick blastoderms by certain 5β-androstane and 5β-pregnane steroids, Proc. Natl. Acad. Sci. USA. 58:985–990.
Levin, E. Y., 1968, Uroporphyrinogen III cosynthetase in bovine erythropoietic porphyria, Science 161:907–908.
Levin, E. Y., 1971, Enzymatic properties of uroporphyrinogen III cosynthetase, Biochemistry 10:4669–4675.
Levin, E. Y., and Flyger, V., 1973, Erythropoietic porphyria of the fox squirrel Sciurus niger, J. Clin. Invest. 52:96–105.
Levin, W., Jacobson, M., and Kuntzman, R., 1972, Incorporation of radioactive δ-aminolevulinic acid into microsomal cytochrome P-450. Selective breakdown of the hemoprotein by allyl-isopropylacetamide and carbon tetrachloride, Arch. Biochem. Biophys. 148:262–269.
Lindblad, B., Lindstedt, S., and Steen, G., 1977, On the enzymic defects in hereditary tyrosinemia, Proc. Natl. Acad. Sci. USA. 74:4641–4645.
Llambias, E. B. C., and Batlle, A. M. del C., 1971, Porphyrin biosynthesis VIII. Avian erythrocyte porphobilinogen deaminase—uroporphyrinogen III cosynthetase, its purification, properties, and the separation of its compounds, Biochim. Biophys. Acta 227:180–191.
Lomholt, J. C., and With, T. K., 1969, Hereditary coproporphyria. A family with unusually few and mild symptoms, Acta Med. Scand. 186:83–85.
Louw, M., Neethling, A. C., Percy, V. A., Carstens, M., and Shanley, B. C., 1977, Effects of hexachlorobenzene feeding and iron overload on enzymes of haem biosynthesis and cytochrome P450 in rat liver, Clin. Sci. Mol. Med. 53:111–115.
Lundvall, O., Weinfeld, A. D., and Lundin, P., 1970, Iron storage in porphyria cutanea tarda, Acta Med. Scand. 188:37–53.
Lynch, P. J., and Miedler, L. J., 1965, Erythropoietic protoporphyria. A report of a family and a clinical review, Arch. Dermatol. 92:351–356.
Magnus, I. A., Jarrett, A., Prankerd, T. A. J., and Rimington, C., 1961, Erythropoietic protoporphyria: A new porphyria syndrome with solar urticaria due to protoporphyr-inaemia, Lancet ii:448–451.
Magnussen, C. R., Levine, J. B., Doherty, J. M., Cheesman, J. O., and Tschudy, D. P., 1974, A red cell enzyme method for the diagnosis of acute intermittent porphyria, Blood 44:857–868.
Maines, M. D., and Kappas, K., 1974, Cobalt induction of hepatic heme oxygenase; with evidence that cytochrome P-450 is not essential for this enzymatic activity, Proc. Natl. Acad. Sci. USA 71:4293–4297.
Maines, M. D., and Kappas, A., 1976, Studies on the mechanism of induction of haem oxygenase by cobalt and other metal ions, Biochem. J. 154:125–131.
Maines, M. D., and Kappas, A., 1977, Metals as regulators of heme catabolism, Science 198:1215–1221.
Mangum, C. P., 1978, Nonhuman models of hereditary porphyrias, Science 201:1043.
Margolis, F. L., 1971, Regulation of porphyrin biosynthesis in the Harderian gland of inbred mouse strains, Arch. Biochem. Biophys. 145:373–381.
Marver, H. S., Collins, A., Tschudy, D. P., and Rechcigl, M., Jr., 1966, δ-Aminolevulinic acid synthetase II. Induction in rat liver, J. Biol. Chem. 241:4323–4329.
Masuya, T., 1969, Pathophysiological observations on porphyrias, Acta Haematol. Jpn. 32:25–74.
Mauzerall, D., and Granick, S., 1956, Occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine, J. Biol. Chem. 219:435–446.
Mauzerall, D., and Granick, S., 1958, Porphyrin biosynthesis in erythrocytes. III. Uroporphyrinogen and its decarboxylase, J. Biol. Chem. 232:1141–1162.
McIntyre, N., Pearson, A. J. G., Allan, D. J., Craske, S., West, G. M. L., Moore, M., Beattie, A. D., Paxton, J., and Goldberg, A., 1971, Hepatic δ-aminolevulinic acid synthetase in acute attack of hereditary coproporphyria and during remission, Lancet i:560–564.
McKay, R., Druyan, R., Getz, G. S., and Rabinowitz, M., 1969, Intramitochondrial localisation of δ-aminolaevulate synthetase and ferrochelatase in rat liver, Biochem. J. 114:455–461.
Meyer, U. A., 1973, Intermittent acute porphyria. Clinical and biochemical studies of disordered heme biosynthesis, Enzyme 16:336–342.
Meyer, U. A., and Schmid, R., 1978, The porphyrias, in: The Metabolic Basis of Inherited Diseases (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds.), 5th Edn., pp. 1166–1220, McGraw-Hill, New York.
Meyer, U. A., Strand, L. J., Doss, M., Rees, A. C., and Marver, H. S., 1972, Intermittent acute porphyria—demonstration of a genetic defect in porphobilinogen metabolism, N. Engl. J. Med. 286:1277–1282.
Miyagi, K., Cardinal, R., Bassenmaier, I., and Watson, C. J., 1971, The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals, J. Lab. Clin. Med. 78:683–695.
Miyagi, K., Petryka, Z. J., Bassenmaier, I., Cardinal, R., and Watson, C. J., 1976, The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (CEP), Am. J. Hematol. 1:3–21.
Miyagi, K., Kaneshima, M., Kawakami, J., Nakada, F., Petryka, Z. J., and Watson, C. J., 1979, Uroporphyrinogen I synthase from human erythrocytes: Separation, purification, and properties of isoenzymes, Proc. Natl. Acad. Sci. USA 76:6172–6176.
Moore, M. R., and Meredith, P. A., 1976, The association of delta-aminolaevulinic acid with the neurological and behavioral effects of lead exposure, in: Trace Substances in Environmental Health. X. A Symposium (D. D. Hemphil, ed.), pp. 363–371, University of Missouri, Columbia.
Moore, M. R., Thompson, G. G., and Goldberg, A., 1972, Amounts of faecal porphyrin-peptide conjugates in porphyrias, Clin. Sic. 43:299–302.
Moore, M. R., Thompson, G. G., Payne, A. P., and McGadey, J., 1977, Cyclical oscillations in the activity of δ-aminolevulinate synthase and porphyrin synthesis in the Harderian gland during the oestrous cycle of the golden hamster (Mesocricetus auratus), Biochem. Soc. Trans. 5:1475–1478.
Moore, M. R., Thompson, G. G., Goldberg, A., Ippen, H., Seubert, A., and Seubert, S., 1978, The biosynthesis of haem in congenital (erythropoietic) porphyria, Int. J. Biochem. 9:933–938.
Müller, W. E., and Snyder, S. H., 1977, δ-Aminolevulinic acid: Influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria, Ann. Neurol. 2:340–342.
Mustajoki, P., 1976, Red cell uroporphyrinogen I synthetase in acute intermittent porphyria, Ann. Clin. Res. 8(suppl. 17): 133–138.
Mustajoki, P., 1978, Variegate porphyria, Ann. Intern. Med. 89:238–244.
Mustajoki, P., and Koskelo, P., 1976, Hereditary hepatic porphyrias in Finland, Acta Med. Scand. 200:171–178.
Nacht, S., San Martín de Viale, L. C., and Grinstein, M., 1970, Human porphyria cutanea tarda. Isolation and properties of the urinary porphyrins, Clin. Chim. Acta 27:445–452.
Nakakuki, M., Yamauchi, K., Hayashi, N., and Kikuchi, G., 1980, Purification and some properties of δ-aminolevulinate synthase from the rat liver cytosol fraction and immunochemical identity of the cytosolic enzyme and the mitochondrial enzyme, J. Biol. Chem. 255:1738–1745.
Nakao, K., Wada, O., Kitamura, T., Uono, K., and Urata, G., 1966, Activity of amino-laevulinic acid synthetase in normal and porphyric human livers, Nature 210:838–839.
Nandi, D. L., and Shemin, D., 1968, δ-Aminolevulinic acid dehydratase of Rhodopseudo-monas spheroïdes. III. Mechanism of porphobilinogen synthesis, J. Biol. Chem. 234:1236–1242.
Neuberger, A., and Turner, J. M., 1963, γ, δ-Dioxovalerate aminotransferase activity in Rhodopseudomonas spheroides, Biochim. Biophys. Acta 67:342–345.
Neuwirt, J., and Ponka, P., 1977, Regulation of Haemoglobin Synthesis, Martinus Mijhoff/ Medical Division. The Hague, The Netherlands.
Nicoll, R. A., 1976, The interaction of porphyrin precursors with GABA receptors in the isolated frog spinal cord, Life Sci. 19:521–526.
Nitowsky, H. M., Sassa, S., Nakagawa, M., and Jagani, N., 1978, Prenatal diagnosis of congenital erythropoietic porphyria (abs.), Pediatr. Res. 12:455.
Nordmann, Y., Grandchamp, B., Grelier, M., Phung, N., and deVerneuil, H., 1976, Detection of intermittent acute porphyria trait in children, Lancet ii:201–202.
Nordman, Y., Grandchamp, B., Phung, N., deVerneuil, H., Grelier, M., and Noiré, J., 1977, Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria, Lancet i:140.
Ohashi, A., and Kikuchi, G., 1972, Mechanism of allylisopropylacetamide-induced increase of δ-aminolevulinate synthetase in liver mitochondria. VI. Multiple molecular forms of δ-aminolevulinate synthetase in the cytosol and mitochondria of induced cock liver, Arch. Biochem. Biophys. 153:34–46.
Ohashi, A., and Kikuchi, G., 1979, Purification and some properties of two forms of δ-aminolevulinate synthase from rat liver cytosol, J. Biochem. (Tokyo) 85:239–247.
Onisawa, J., and Labbe, R. F., 1963, Effects of diethyl-1,4-dihydro-2,4,6-trimethylpyridine-3,5-dicarboxylate on the metabolism of porphyrins and iron, J. Biol. Chem. 238:724–727.
Padmanaban, G., Rao, M. R. S., and Malathi, K., 1973, A model for the regulation of 8-aminolaevulinate synthetase induction in rat liver, Biochem. J. 134:847–857.
Pain, R. W., Welch, F. W., Woodroffe, A. J., Handley, D. A., and Lockwood, W. H., 1975, Erythropoietic uroporphyria of Günther first presenting at 58 years with positive family studies, Br. Med. J. 3:621–623.
Paterniti, J., Simone, J., and Beattie, D., 1978, Detection and regulation of δ-aminolevulinic acid synthetase activity in the rat brain, Arch. Biochem. Biophys. 189:86–91.
Paterniti, J. R., Jr. and Beattie, D. S., 1979, δ-Aminolevulinic acid synthetase from rat liver mitochondria, Purification and properties, J. Biol. Chem. 253:6112–6118.
Patton, G. M., and Beattie, D. S., 1973, Studies on hepatic δ-aminolevulinic acid synthetase, J. Biol. Chem. 248:4467–4474.
Paul, S., Bickers, D. R., Levere, R. D., and Kappas, A., 1974, Inhibited induction of hepatic δ-aminolevulinate synthetase in pregnancy, FEBS Lett. 41:192–194.
Paxton, J. W., Moore, M. R., Beattie, A. D., and Goldberg, A., 1974, 17-Oxosteroid conjugates in plasma and urine of patients with acute intermittent porphyria, Clin. Sci. Mol. Med. 46:207–222.
Payne, A. P., McGadey, J., Moore, M. R., and Thompson, G. G., 1979, Changes in Harderian gland activity in the female golden hamster during the oestrous cycle, pregnancy and lactation, Biochem. J. 178:597–604.
Percy, V. A., and Shanley, B. C., 1977, Porphyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria, S. Afr. Med. J. 52:214–222.
Peterson, L. R., Hamernyik, P., Bird, T. D., and Labbe, R. F., 1976, Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria, Clin. Chem. 22:1835–1840.
Petryka, Z. J., Kostich, N. D., and Dhar, G. J., 1978, Location of iron and porphyrin in the liver in porphyria cutanea tarda, Acta Histochem. 63:168–176.
Piepkorn, M. W., Hamernyik, P., and Labbe, R. F., 1978, Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretation, Clin. Chem. 24:1751–1754.
Pierach, C. A., and Edwards, P. S., 1978, Neurotoxicity of δ-aminolevulinic acid and porphobilinogen, Exp. Neurol. 62:810–814.
Pimstone, N. R., 1975, The hepatic aspects of the porphyrias, in: Modern Trends in Gastroenterology (A. E. Read, ed.), pp. 373–417, Butterworths, London.
Pimstone, N. R., Blekkenhorst, G., and Eales, L., 1973, Enzymatic defects in hepatic porphyria. Preliminary observations in patients with porphyria cutanea tarda, and variegate porphyria, Enzyme 16:354–366.
Piñol Aguadé, J., Castells, A., Indacochea, A., and Rodés, J., 1969, A case of biochemically unclassifiable hepatic porphyria, Br. J. Dermatol. 81:270–275.
Piñol Aguadé, J., Herrero, C., Almeida, J., Castells Mas, A., Ferrando, J., De Asprer, J., Palou, A., and Giménez, A., 1975, Porphyrie hépato-érythrocytaire. Une nouvelle forme de Porphyrie, Ann. Derm. Syphiligr. 102:125–136.
Piomelli, S., Lamola, A. A., Poh-Fitzpatrick, M. B., Seaman, C., and Harber, L. C., 1975, Erythropoietic protoporphyria and lead intoxication: The molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro, J. Clin. Invest. 56:1519–1527.
Poh-Fitzpatrick, M. B., Bellet, N., DeLeo, V. A., Grossman, M. E., and Bickers, D. R., 1978, Porphyria cutanea tarda in two patients treated with hemodialysis for chronic renal failure, N. Engl. J. Med. 299:292–294.
Porra, R. J., and Jones, O. T. G., 1963, Studies on ferrochelatase. 1. Assay and properties of ferrochelatase from a pig liver mitochondrial extract, Biochem. J. 87:181–185.
Porra, R. J., and Falk, J. E., 1964, The enzymic conversion of coproporphyrinogen III into protoporphyrin IX, Biochem. J. 90:69–75.
Porra, R. J., and Grimme, L. H., 1978, Tetrapyrrole biosynthesis in algae and higher plants: A discussion of the importance of the 5-aminolaevulinate synthase and the dioxovalerate transaminase pathways in the biosynthesis of chlorophyll, Int. J. Biochem. 9:883–886.
Porter, P. N., Meints, R. H., and Mesner, K., 1979, Enhancement of erythroid colony growth in culture by hemin, Exp. Hematol. 7:11–16.
Porter, S., and Lowe, B. A., 1963, Congenital erythropoietic protoporphyria: I. Case reports, clinical studies and porphyrin analyses in two brothers, Blood 22:521–531.
Poulson, R., 1976, The enzymic conversion of protoporphyrinogen IX to protoporphyrin IX in mammalian mitochrondria, J. Biol. Chem. 251:3730–3733.
Poulson, R., and Polgase, W. J., 1974a, Aerobic and anaerobic coproporphyrinogenase activities in extracts from Saccharomyces cerevisiae: Purification and characterization, J. Biol. Chem. 249:6367–6371.
Poulson, R., and Polgase, W. J., 1974b, Site of glucose repression of heme biosynthesis, FEBS Lett. 40:258–260.
Poulson, R., and Polgase, W. J., 1975, The enzymic conversion of protoporphyrinogen IX to protoporphyrin IX. Protoporphyrinogen oxidase activity in mitochondrial extracts of Saccharomyces cerevisiae, J. Biol. Chem. 250:1269–1274.
Pritchard, J. A., and Mason, R. A., 1964, Iron stores of normal adults and replenishment with oral iron therapy, J. Am. Med. Assoc. 190:897–901.
Rasmussen, G. L., and Kushner, J. P., 1979, The enzymatic decarboxylation of the naturally occurring isomers of uroporphyrinogens by human erythrocytes, J. Lab. Clin. Med. 93:54–59.
Redeker, A. G., and Bronow, R. S., 1964, Erythropoietic protoporphyria presenting as hydroa aestivale, Arch. Dermatol. 89:104–109.
Redeker, A. G., and Bryan, H. G., 1964, Erythropoietic protoporphyria, Lancet i: 1449–1450.
Redeker, A. G., and Sterling, R. E., 1968, The “glucose effect” in erythropoietic protoporphyria, Arch. Intern. Med. 121:446–448.
Redeker, A. G., Bronow, R. S., and Sterling, R. E., 1963, Erythropoietic protoporphyria, S. Afr. J. Lab. Clin. Med. 9:235–238.
Reed, W. B., Wuepper, K. D., Epstein, J. H., Redeker, A., Simonson, R. J., and McKusick, V. A., 1970, Erythropoietic protoporphyria. A clinical and genetic study, J. Am. Med. Assoc. 214:1060–1066.
Rifkind, A. B., 1976, Drug-induced exacerbations of porphyria, Primary Care 3:665–685.
Rifkind, A. B., 1979, Maintenance of microsomal hemoprotein concentrations following inhibition of ferrochelatase activity of 3,5-diethoxycarbonyl-l,4-dihydrocollidine in chick embryo liver, J. Biol. Chem. 254:4636–4644.
Rifkind, A. B., Sassa, S., Merkatz, I. R., Winchester, R., Harber, L., and Kappas, A., 1974, Stimulators and inhibitors of hepatic porphyrin formation in human sera, J. Clin. Invest. 53:1167–1177.
Rimbaud, P., Meynadier, J., and Guilhou, J. J., 1973, La porphyrie cutanée tardive. A propos de deux observations associées à un cancer hépatique, Sem. Hôp. 49:719–725.
Rimington, C., and Miles, P. A., 1951, A study of the porphyrins excreted in the urine by a case of congenital porphyria, Biochem. J. 50:202–206.
Rimington, C., and With, T. K., 1973, Porphyrin studies in erythropoietic porphyria, Danish Med. Bull. 20:5–12.
Rimington, C., Lockwood, W. H., and Belcher, R. V., 1968, The excretion of porphyrin-peptide conjugates in porphyria variegata, Clin. Sci. 35:211–247.
Rimington, C., Sears, W. G., and Eales, L., 1972, Symptomatic porphyria in a case of Felty’s syndrome. II. Biochemical investigations, Clin. Chem. 18:462–470.
Robinson, S. M., Tsong, M., Brown, B., and Schmid, R., 1966, The sources of bile pigment in the rat: Studies of the “early labeled” fraction, J. Clin. Invest. 45:1569–1586.
Roenigk, H. H., and Gottlob, M. E., 1970, Estrogen-induced porphyria cutanea tarda, Arch. Dermatol. 102:260–266.
Romeo, G., and Levin, E. Y., 1969, Uroporphyrinogen III cosynthetase in human congenital erythropoietic porphyria, Proc. Natl. Acad. Sci. USA 63:856–863.
Romeo, G., and Levin, E. Y., 1971, Uroporphyrinogen decarboxylase from mouse spleen, Biochim. Biophys. Acta 230:330–341.
Rose, J. A., Hellman, E. S., and Tschudy, D. P., 1961, Effect of diet on the induction of experimental porphyria, Metabolism 10:514–521.
Rosenthal, I. M., Lipton, E. L., and Asrow, G., 1955, Effect of splenectomy on porphyria erythropoietica, Pediatrics 15:663–675.
Ross, J., and Sautner, D., 1976, Induction of globin mRNA accumulation by hemin in cultured erythroleukemic cells, Cell 8:513–520.
Ross, J., Ikawa, Y., and Leder, P., 1972, Globin messenger RNA induction during erythroid differentiation of cultured leukemia cells, Proc. Natl. Acad. Sci. USA 69:3620–3623.
Ruth, G. R., Schwartz, S., and Stephenson, B., 1977, Bovine protoporphyria: The first nonhuman model of this hereditary photosensitizing disease, Science 198:199–201.
Rutherford, T., Thompson, G. G., and Moore, M. R., 1979, Heme biosynthesis in Friend erythroleukemia cells: Control by ferrochelatase, Proc. Natl. Acad. Sci. USA 76:833–836.
San Martín de Viale, L. C., Rios de Molina, M. del C., Wainstok de Calmanovici, R., and Tomio, J. M., 1976, Experimental porphyria produced in rats by hexachlorobenzene. IV. Studies on the stepwise decarboxylation of uroporphyrinogen and phyriaporphyr-inogen “in vivo” and “in vitro” in several tissues, in: Porphyrins in Human Diseases (M. Doss, ed.), pp. 445–452, Karger, Basel.
San Martín de Viale, L. C., Rios de Molina, M. del C., Wainstok de Calmanovici, R., and Tomio, J. M., 1977, Porphyrins and porphyrinogen carboxy-lyase in hexachlorobenzene induced porphyria, Biochem. J. 168:393–400.
Sano, S., and Granick, S., 1961, Mitochondrial coproporphyrinogen oxidase and protoporphyrin formation, J. Biol. Chem. 236:1173–1180.
Sancovich, H. A., Batlle, A. M. C., and Grinstein, M., 1969, Porphyrin biosynthesis. VI. Separation and purification of porphobilinogen deaminase and uroporphyrinogen iso-merase from cow liver, Biochim. Biophys. Acta 191:130–143.
Sasaki, H., Kaneko, K., and Tsuneyama, H., 1969, Activities of δ-aminolevulinic acid synthetase in the liver and bone marrow of hepatic coproporphyria (hereditary coproporphyria), Acta Med. Biol. (Niigata) 17:97–99.
Sassa, S., 1976, Sequential induction of heme pathway enzymes during erythroid differentiation of mouse Friend leukemia virus-infected cells, J. Exp. Med. 143:305–315.
Sassa, S., 1980, Control of heme biosynthesis in erythroid cells, in: Erythropoiesis and Differentiation in Friend Leukemia Cells, EMBO Workshop on CNR, Urbino, Italy, pp. 219–228, Elsevier/North-Holland Biochem. Press, Amsterdam.
Sassa, S., and Bernstein, S. E., 1977, Levels of δ-aminolevulinate dehydratase, uroporphyrinogen-I synthase, and protoporphyrin IX in erythrocytes from anemic mutant mice, Proc. Natl. Acad. Sci. USA 74:1181–1184.
Sassa, S., and Granick, S., 1970, Induction of δ-aminolevulinic acid synthetase in chick embryo liver cells in culture, Proc. Natl. Acad. Sci. USA 67:517–522.
Sassa, S., and Kappas A., 1977, Induction of δ-aminolevulinate synthase and porphyrins in cultured liver cells maintained in chemically defined medium. Permissive effects of hormones on the induction process, J. Biol. Chem. 252:2428–2436.
Sassa, S., and Urabe, A., 1979, Uroporphyrinogen I synthase induction in normal human bone marrow cultures: An early and quantitative response of erythroid differentiation, Proc. Natl. Acad. Sci. USA 76:5321–5325.
Sassa, S., Granick, S., Bickers, D. S., Levere, R. D., and Kappas, A., 1973, Studies on the inheritance of human erythrocyte δ-aminolevulinate dehydratase and uroporphyrinogen synthetase, Enzyme 16:326–333.
Sassa, S., Granick, S., Bickers, D. R., Bradlow, H. L., and Kappas, A., 1974a, Amicroassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease, Proc. Natl. Acad. Sci. USA 71:732–736.
Sassa, S., Levere, R. D., Solish, G., and Kappas, A., 1974b, Studies on the porphyrin-heme biosynthetic pathway in cultured human amniotic cells, J. Clin. Invest. 53:70a–71a.
Sassa, S., Granick, S., and Kappas, A., 1975a, Effect of lead and genetic factors on heme biosynthesis in the human red cell, Ann. N.Y. Acad. Sci. 244:419–440.
Sassa, S., Solish, G., Levere, R. D., and Kappas, A., 1975b, Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: Prenatal diagnosis of the porphyric trait, J. Exp. Med. 142:722–731.
Sassa, S., Granick, J. L., Eisen, H., and Ostertag, W., 1978a, Regulation of heme biosynthesis in mouse Friend virus-transformed cells in culture, in: In Vitro Aspects of Erythropoiesis (M. J. Murphy, ed.), pp. 135–142, Springer-Verlag, New York.
Sassa, S., Zalar, G. L., and Kappas, A., 1978b, Studies in porphyria. VII. Induction of uroporphyrinogen-I synthase and expression of the gene defect of acute intermittent porphyria in mitogen-stimulated human lymphocytes, J. Clin. Invest. 61:499–508.
Sassa, S., Bradlow, H. L., and Kappas, A., 1979a, Steroid induction of δ-aminolevulinic acid synthase and porphyrins in liver. Structure-activity studies and the permissive effects of hormones on the induction process, J. Biol. Chem. 254:10011–10020.
Sassa, S., Zalar, G. L., Poh-Fitzpatrick, M. B., and Kappas, A., 1979, Studies in porphyria. IX: Detection of the gene defect of erythropoietic protoporphyria in mitogen-stimulated human lymphocytes, Trans. Assoc. Am. Physicians 92:268–276.
Sassa, S., Whetsell, W. O., Jr., and Kappas, A., 1979c, Studies on porphyrin-heme biosynthesis in organotypic cultures of chick dorsal root ganglia. II. The effect of lead, Env. Res. 19:415–426.
Sato, A., and Takahasi, N., 1926, A new form of congenital hematoporphyria: Oligochro-memia, porphyrinuria (megalosplenica congenita), Am. J. Dis. Child. 32:325–333.
Saunders, S. J., 1963, Iron metabolism in symptomatic porphyria, S. Afr. J. Lab. Clin. Med. 9:277–283.
Sawada, H., Takeshita, M., Sugita, Y., and Yoneyama, Y., 1969, Effect of lipid on protoheme ferrolyase, Biochim. Biophys. Acta 178:145–155.
Schmid, R., 1960, Cutaneous porphyria in Turkey, N. Engl. J. Med. 263:393–398.
Schmid, R., Schwartz, A., and Watson, C. J., 1954, Porphyrin content of bone marrow and liver in various forms of porphyria, Arch. Intern. Med. 93:167–190.
Schmid, R., Schwartz, S., and Sundberg, D., 1955, Erythropoietic (congenital) porphyria: A rare abnormality of the normoblasts, Blood 10:416–428.
Scholnick, P., and Marver, H. S., 1968, The molecular basis of chloroquine responsiveness in porphyria cutanea tarda, Clin. Res. 16:258.
Scholnick, P., Marver, H. S., and Schmid, R., 1971, Erythropoietic protoporphyria: Evidence for multiple sites of excess protoporphyrin formation, J. Clin. Invest. 50:203–207.
Scholnick, P. L., Hammaker, E., and Marver, H. S., 1972, Soluble δ-aminolevulinic acid synthetase of rat liver. II. Studies related to the mechanism of enzyme action and heme inhibition, J. Biol. Chem. 247:4132–4137.
Scholnick, P. L., Epstein, J., and Marver, H. S., 1973, The molecular basis of the action of chloroquine in porphyria cutanea tarda, J. Invest. Dermatol. 61:226–232.
Schumaker, H. M., Tishler, P. V., and Knighton, D. J., 1976, A spot test for uroporphyrinogen I synthase, the enzyme that is deficient in intermittent acute porphyria, Clin. Chem. 22:1991–1994.
Schwartz, S., and Ruth, G. R., 1978, Nonhuman models of hereditary porphyrias, Science 201:1043.
Schwartz, S., Johnson, J. A., Stephenson, B. D., Anderson, A. S., Edmondson, P. R., and Fusaro, R. M., 1971, Erythropoietic defects in protoporphyria: A study of factors involved in labelling of porphyrins and bile pigments from ALA-3H and glycine-14C., J. Lab. Clin. Med. 78:411–434.
Sedman, R. M., and Tephly, T. R., 1980, Cardiac δ-aminolevulinic acid synthetase activity. Effects of fasting, cobaltous chloride and hemin, Biochem. Pharmacol. 29:795–800.
Shemin, D., 1955, The succinate-glycine cycle: The role of δ-aminolaevulinic acid in porphyrin synthesis, Porphyrin Biosynth. Metab. Ciba Found. Symp. 4, pp. 4–22, Churchill, London.
Simard, H., Barry, A., Villeneuve, B., Petitclerc, C., Garneau, R., and Delâge, J.-M., 1972, Porphyrie erythropoiétique congénitale, Can. Med. Assoc. J. 106:1002–1004.
Sinclair, P., and Granick, S., 1975, Heme control of the synthesis of delta-aminolevulinic acid synthetase in cultured chick embryo liver cells, Ann. N. Y. Acad. Sci. 244:509–520.
Singer, J. W., Samuels, A. I., and Adamson, J. W., 1976, Steroids and hematopoiesis. I. The effect of steroids on in vitro erythroid colony growth structure/activity relationships, J. Cell Physiol. 88:127–134.
Smart, G. A., Herbert, F. K., Whittaker, N., and Barnes, H. D., 1965, Contraindications of biological oxidation inhibitors in treatment of porphyria, Lancet i:318.
Smith, A. G., and Francis, J. E., 1979, Decarboxylation of porphyrinogens by rat liver uroporphyrinogen decarboxylase, Biochem. J. 183:455–458.
Smith, A. G., Cabral, J. R. P., and DeMatteis, F., 1979, A difference between two strains of rats in their liver non-haem iron content and in their response to the porphyrogenic effect of hexachlorobenzene, Chem. Biol. Interact. 27:353–363.
Smith, S. G., 1960, The porphobilinogen in fresh postmortem tissues from a case of acute intermittent porphyria, Arch. Pathol. 70:361–362.
Smith, S. G., Jackson, A. H., and Jackson, T. R., 1976, Incubation of double labelled coproporphyrinogen with chicken red haemolysates. Chemical and TLC fractionation of extracts, Ann. Clin. Res. 8(Suppl. 17):53–55.
Song, C. S., Moses, H. L., Rosenthal, A. S., Gelb, N. A., and Kappas, A., 1971, The influence of postnatal development on drug-induced hepatic porphyria and the synthesis of cytochrome P-450, J. Exp. Med. 134:1349–1371.
Soslau, G., Stotz, E. H., and Lockshin, R. A., 1971, Stimulation of cytochrome c synthesis in the developing polyphemus moth by δ-aminolevulinic acid, Biochemistry 10:3296–3249.
Soyka, L. F., and Deckert, F. W., 1974, Further studies on the inhibition of drug metabolism by pregnanolone and related steroids, Biochem. Pharmacol. 23:1629–1639.
Soyka, L. F., and Long, R., 1972, In vitro inhibition of drug metabolism by metabolites of progesterone, J. Pharm. Exp. Ther. 182:320–327.
Stich, von W., 1958, Die kongenitale Porphyrie, eine erythropathische hämolytische Anämie (Porphyrocytose), Schw. Klin. Wschr. 41:1012–1014.
Strand, L. J., and Marver, H., 1970, Determination of δ-aminolevulinic acid synthetase (ALA-S) in cell culture: Naturally occurring inducers in normal human plasma, Clin. Res. 18:345.
Strand, L. J., Felsher, B., Redeker, A. G., and Marver, H. S., 1970, Enzymatic abnormalities in heme biosynthesis in intermittent acute porphyria: Decreased hepatic conversion of porphobilinogen to porphyrins and increased δ-aminolaevulinic acid synthetase activity, Proc. Natl. Acad. Sci. USA 67:1315–1320.
Strand, L. J., Meyer, U. A., Felsher, B. F., Redeker, A. G., and Marver, H. S., 1972, Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria, J. Clin. Invest. 51:2530–2536.
Strife, C. F., Zuroweste, E. L., Emmett, E. A., Finelli, V. N., Petering, H. G., and Berry, H. K., 1977, Tyrosinemia with acute intermittent porphyria: Aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels, J. Pediat. 90:400–404.
Strik, J. J. T. W. A., 1978a, Porphyrinogenic action of polyhalogenated aromatic compounds, with special reference to porphyria and environmental impact, in: Diagnosis and Therapy of Porphyrias and Lead Intoxication (M. Doss, ed.), pp. 151–164, Springer-Verlag, Berlin.
Strik, J. J. T. W. A., 1978b, Toxicity of PBB’s with special reference to porphyrinogenic action and spectral interaction with hepatic cytochrome P-450, Env. Health Persp. 23:167–175.
Sullivan, L. W., and Herbert, V., 1964, Suppression of hematopoiesis by ethanol, J. Clin. Invest. 43:2048–2062.
Sveinsson, S. L., Rimington, C., and Barnes, H. D., 1949, Complete porphyrin analysis of pathological urines, Scand. J. Clin. Lab. Invest. 1:2–11.
Sweeney, G. D., 1963, Patterns of porphyrin excretion in South African porphyric patients, S. Afr. J. Clin. Lab. Med. 9:182–189.
Sweeney, G. D., and Jones, K. G., 1979, Porphyria cutanea tarda: Clinical and laboratory features, Can. Med. Assoc. J. 120:803–807.
Sweeney, G. D., Jones, K. G., Cole, F. M., Basford, D., and Kretynski, F., 1979, Iron deficiency prevents liver toxicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin, Science 204:332–335.
Sweeney, V. P., Pathak, M. A., and Asbury, A. K., 1970, Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack, Brain 93:369–380.
Taddeini, L., and Watson, C. J., 1968, The clinical porphyrias, Sem. Hematol. 5:335–369.
Takaku, F., Yano, Y., Aoki, Y., Nakao, K., and Wada, O., 1972, δ-Aminolevulinic acid synthetase activity of human bone marrow erythroid cells in various hematological disorders, Tohoku J. Exp. Med. 107:217–228.
Taljaard, J. J. F., Shanley, B. C., and Joubert, S. M., 1971, Decreased uroporphyrinogen decarboxylase activity in “experimental symptomatic porphyria,” Life Sci. 10(Pt. 2):887–893.
Taljaard, J. J. F., Shanley, B. C., Deppe, W. M., and Joubert, S. M., 1972, Porphyrin metabolism in experimental hepatic siderosis in the rat. III. Effect of iron overload and hexachlorobenzene on liver haem biosynthesis, Br. J. Haematol. 23:587–593.
Tenhunen, R., Marver, H. S., and Schmid, R., 1969, Microsomal heme oxygenase. Characterization of the enzyme, J. Biol. Chem. 244:6388–6394.
Tephly, T. R., 1978, Inhibition of liver hemoprotein synthesis, in: Heme and Hemoproteins— Handbook of Experimental Pharmacology (F. DeMatteis and W. M. Aldridge, ed.), Vol. 44, pp. 81–94, Springer-Verlag, Berlin.
Tephly, T. R., Hasegawa, E., and Baron, J., 1971, Effect of drugs on heme synthesis in the liver, Metabolism 20:200–214.
Tephly, T. R., Condie, L. W., and Piper, W. N., 1973, The role of substrates for glycine acyltransferase and the role of sulfanilamide and acetate in the reversal of chemically-induced porphyria in the rat, Enzyme 16:187–195.
Theologides, A., Kennedy, B. J., and Watson, C. J., 1964, A study of urinary porphyrins and porphyrin precursors in patients with malignant disease receiving diethylstilbestrol, Metabolism 13:391–395.
Thivolet, J., Euvrard, S., and Perrot, H., Moskovtchenko, J.-F., Claudy, A., and Ortonne, J.-P., 1977, La pseudo-porphyrie cutanée tardive des hémodialyses; aspects cliniques et histologiques à propos de 9 cas, Ann. Dermatol. Vénérol. 104:12–17.
Thompson, R. P. H., Nicholson, D. C., Farnan, M. B., Whitemore, D. N., and Williams, R., 1970, Cutaneous porphyria due to a malignant primary hepatoma, Gastroenterology 59:779–783.
Tiepermann, von R. v., and Doss, M., 1978, Uroporphyrinogen-Decarboxylase in Erythrocyten. Untersuchungen zum primären genetischer Enzymdefekt bei chronischer hepatischer Porphyrie, J. Clin. Chem. Clin. Biochemie 16:513–517.
Tio, T. H., Leijnse, B., Jarrett, A., and Rimington, C., 1957, Acquired porphyria from a liver tumor, Clin. Sci. 16:517–527.
Tobias, G., 1964, Congenital porphyria in a cat, J. Am. Vet. Med. Ass. 145:462–463.
Tofilon, P. J., and Piper, W. N., 1980, Measurement and regulation of rat testicular δ-aminolevulinic acid synthetase activity, Arch. Biochem. Biophys. 201:104–109.
Tomaro, M. L., Frydman, R. O., and Frydman, B., 1973, Porphobilinogen oxygenase from rat liver. Induction, isolation and properties, Biochemistry 12:5263–5268.
Tomio, J. M., Garcia, R. C., San Martín de Viale, L. C., and Grinstein, M., 1970, Porphyrin biosynthesis. VII. Porphyrinogen carboxy-lyase from avian erythrocytes. Purification and properties, Biochim. Biophys. Acta 198:353–363.
Tomita, Y., Ohashi, A., and Kikuchi, G., 1974, Induction of δ-aminolevulinate synthetase in organ culture of chick embryo liver by allylisopropylacetamide and 3,5-dicarbethoxy-1,4-dihydrocollidine, J. Biochem. 75:1007–1015.
Tschudy, D. P., 1965, Biochemical lesions in porphyria, J. Am. Med. Assoc. 191:718–730.
Tschudy, D. P., and Lamon, J. M., 1980, Porphyrin metabolism and the porphyrias, in: Metabolic Control and Disease, 8th Ed. (P. K. Bondy and L. E. Rosenberg, eds.), pp. 939–1007, W. B. Saunders, Philadelphia.
Tschudy, D. P., and Collins, A., 1957, Effect of 3-amino-1,2,4-triazole on δ-aminolevulinic acid dehydrase activity, Science 126:168.
Tschudy, D. P., Welland, F. H., Collins, A., and Hunter, G., Jr., 1964, The effect of carbohydrate feeding on the induction of δ-aminolevulinic acid synthetase, Metabolism 13:396–406.
Tschudy, D. P., Marver, H. S., and Collins, A., 1965a, A model for calculating messenger RNA half-life: Short-lived messenger RNA in the induction of mammalian δ-aminolevulinic acid synthetase, Biochem. Biophys. Res. Comm. 21:480–487.
Tschudy, D. P., Perlroth, M. G., Marver, H. S., Collins, A., Hunter, G., Jr., and Rechcigl, M., Jr., 1965b, Acute intermittent porphyria: The first “over-production disease” localized to a specific enzyme, Proc. Natl. Acad. Sci. USA 53:841–847.
Tschudy, D. P., Valsamis, M., and Magnussen, C.R., 1975, Acute intermittent porphyria: Clinical and selected research aspects, Ann. Intern. Med. 83:851–864.
Tsukamoto, L, Yoshinaga, T., and Sano, S., 1979, The role of zinc with special reference to the essential thiol groups in δ-aminolevulinic acid dehydratase of bovine liver, Biochim. Biophys. Acta. 570:167–178.
Turnbull, A., 1971, Iron metabolism in the porphyria, Br. J. Dermatol. 84:380–383.
Turnbull, A., Baker, H., Vernon-Roberts, B., and Magnus, J. A., 1973, Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria, Quart. J. Med. 42:341–355.
Turner, W. J., 1937, Studies on porphyria. I. Observations on the fox squirrel (Sciurus niger), J. Biol. Chem. 118:519–530.
Urabe, A., Sassa, S., and Kappas, A., 1979, The influence of steroid hormone metabolites on the in vitro development of erythroid colonies derived from human bone marrow, J. Exp. Med. 149:1314–1325.
Uys, C. J., and Eales, L., 1963, The histopathology of the liver in acquired porphyria, S. Afr. J. Lab. Clin. Med. 9:190–197.
Varadi, S., 1958, Haematological aspects in a case of erythropoietic porphyria, Br. J. Haematol. 4:270–280.
Varticovski, L., Kushner, J. P., and Burnham, B. F., 1980, Biosynthesis of porphyrin precursors. Purification and characterisation of mammalian L-alanine γ, δ-dioxovaleric acid aminotransferase, J. Biol. Chem. 355:3742–3747.
Viljoen, D. J., Cayanis, E., Becker, D. M., Kramer, S., Dawson, B., and Bernstein, R., 1979, Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata, Am. J. Hematol. 6:185–190.
Wada, O., Sassa, S., Takaku, F., Yano, Y., Urata, G., and Nakao, K., 1967, Different responses of the hepatic and erythropoietic δ-aminolevulinic acid synthetase of mice, Biochim. Biophys. Acta 148:585–587.
Waddington, R. T., 1972, A case of primary liver tumour associated with porphyria, Br. J. Surg. 59:653–654.
Wainwright, S. D., and Wainwright, L. K., 1966, Regulation of the initiation of hemoglobin synthesis in the blood island cells of chick embryos. I. Qualitative studies on the effects of actinomycin D and δ-aminolevulinic acid, Can. J. Biochem. 44:1543–1560.
Wainwright, S. D., and Wainwright, L. K., 1967, Regulation of the initiation of hemoglobin synthesis in the blood island cells of chick embryos. II. Early onset and stimulation of hemoglobin formation induced by exogenous δ-aminolevulinic acid, Can. J. Biochem. 45:344–347.
Waldenström, J., 1957, The porphyrias as inborn errors of metabolism, Am. J. Med. 22:758–773.
Waldenström, J., and Haeger-Aronson, B., 1963, Different patterns of human porphyria, Br. Med. J. 2:272–276.
Waldenström, J., and Haeger-Aronson, B., 1967, The porphyrias: A genetic problem, Progr. Med. Genet. 5:58–101.
Warin, R. P., 1963, Porphyria cutanea tarda associated with estrogen therapy for prostatic carcinoma, Br. J. Dermatol. 75:298–299.
Watson, C. J., 1954, Some studies of nature and clinical significance of porphobilinogen, Arch. Intern. Med. 93:643–657.
Watson, C. J., 1960, The problem of porphyria—some facts and questions, N. Engl. J. Med. 263:1205–1215.
Watson, C. J., 1966, Some recent advances in the problem of erythropoietic porphyria, Acta Med. Scand. 445(suppl.):25–35.
Watson, C. J., 1975, Hematin and porphyria, N. Engl. J. Med. 293:605–607.
Watson, C. J., and Schwartz, S., 1941, A simple test for urinary porphobilinogen, Proc. Soc. Exp. Biol. Med. 47:393–394.
Watson, C. J., Perman, V., Spurrell, F. A., Hoyt, H. H., and Schwartz, S., 1958, Some studies of the comparative biology of human and bovine porphyria erythropoietica, Trans. Assoc. Am. Physicians 71:196–206.
Watson, C. J., Perman, V., Spurrell, F. A., Hoyt, H. H., and Schwartz, S., 1959, Some studies of the comparative biology of human and bovine erythropoietic porphyria, Arch. Intern. Med. 103:436–444.
Watson, C. J., Bossenmaier, I., and Cardinal, R., 1961, Acute intermittent porphyria— urinary porphobilinogen and other Ehrlich reactors in the diagnosis, J. Am. Med. Assoc. 175:1087–1091.
Watson, C. J., Runge, W., Taddeini, L., Bossenmaier, I., and Cardinal, R., 1964a, A suggested control gene mechanism for the excessive production of types I and III porphyrins in congenital erythropoietic porphyria, Proc. Natl. Acad. Sci. USA 52:478–485.
Watson, C. J., Taddeini, L., and Bossenmaier, I., 1964, Present status of the Ehrlich aldehyde reaction for urinary porphobilinogen, J. Am. Med. Assoc. 190:501–504.
Watson, C. J., Dhar, G. J., Bossenmaier, I., Cardinal, R., and Petryka, Z. J., 1973, Effect of hematin in acute porphyric relapse, Ann. Int. Med. 74:80–83.
Watson, C. J., Bossenmaier, I., Cardinal, R., and Petryka, Z. J., 1974, Repression by hematin of porphyrin biosynthesis in erythrocyte precursors in congenital erythropoietic porphyria, Proc. Natl. Acad. Sci. USA 71:278–282.
Watson, C. J., Cardinal, R. A., Bossenmaier, I., and Petryka, Z. J., 1975, Porphyria variegata and porphyria cutanea tarda in siblings: Chemical and genetic aspects, Proc. Natl. Acad. Sci. USA 72:5126–5129.
Watson, C. J., Cardinal, R. A., Bossenmaier, I., and Petryka, Z. J., 1976, Porphyria variegata and porphyria cutanea tarda in siblings: Chemical and genetic aspects (Addendum), Proc. Natl. Acad. Sci. USA 73:1323.
Watson, C. J., Pierach, C. A., Bossenmaier, L, and Cardinal, R., 1977, Postulated deficiency of hepatic heme and repair by hematin infusions in the ‘inducible’ hepatic porphyrias, Proc. Natl. Acad. Sci. USA 74:2118–2120.
Watson, C. J., Pierach, C. A., Bossenmaier, I., and Cardinal, R., 1978, Use of hematin in the acute attack of the ‘inducible’ hepatic porphyrias, Adv. Intern. Med. 23:265–286.
Waxman, A. D., Collins, A., and Tschudy, D. P., 1966, Oscillations of hepatic δ-amino-levulinic acid synthetase produced in vivo by heme, Biochem. Biophys. Res. Comm. 24:675–683.
Weissberg, J. B., and Voytek, P. E., 1974, Liver and red cell porphobilinogen synthase in the adult and fetal guinea pig, Biochim. Biophys. Acta 364:304–319.
Welland, F. H., Hellman, E. S., Gaddis, E. M., Collins, A., Hunter, G. W., Jr., and Tschudy, D. P., 1964, Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria. I. The effect of diet, Metabolism 13:232–250.
Wetterberg, L., 1967, A Neuropsychiatric and Genetical Investigation of Acute Intermittent Porphyria, Scandinavian University Books, Svenska Bokforläget, Norstedts.
Wetterberg, L., 1975, Report on an international survey of safe and unsafe drugs in acute intermittent porphyria, in: Supplement to the Proceedings of the First International Porphyria Meeting—Porphyrins in Human Diseases (M. Doss, ed.), p. 191, Freiburg, Germany.
Whetsell, W. O., Jr., Sassa, S., Bickers, D., and Kappas, A., 1978, Studies on porphyrin-heme biosynthesis in organotypic cultures of chick dorsal root ganglion. I. Observation on neuronal and non-neuronal elements, J. Neuropathol. Exp. Neurol. 37:497–507.
Whiting, M. J., 1976, Synthesis of δ-aminolaevulinate synthase by isolated liver polyribosomes, Biochem. J. 158:391–400.
Whiting, M. J., and Elliott, W. H., 1972, Purification and properties of solubilized mitochondrial δ-aminolevulinic acid synthetase and comparison with the cytosol enzyme, J. Biol. Chem. 247:6818–6826.
Whiting, M. J., and Granick, S., 1976a, δ-Aminolevulinic acid synthase from chick embryo liver mitochondria. I. Purification and some properties, J. Biol. Chem. 251:1340–1346.
Whiting, M. J., and Granick, S., 1976b, δ-Aminolevulinic acid synthase from chick embryo liver mitochondria. II. Immunochemical correlation between synthesis and activity in induction and repression, J. Biol. Chem. 251:1347–1353.
Wilson, E. L., Burger, P. E., and Dowdle, E. B., 1972, Beef-liver 5-aminolevulinic acid dehydratase. Purification and properties, Eur. J. Biochem. 29:563–571.
Wilt, F. H., 1968, Heme and regulation of embryonic hemoglobin synthesis, Biochem. Biophys. Res. Comm. 33:113–118.
With, T. K., 1965, Porphyria, Lancet i:916–917.
Woods, J. S., 1974, Studies on the role of heme in the regulation of δ-aminolevulinic acid synthetase during fetal hepatic development, Mol. Pharmacol. 10:389–397.
Woods, J. S., and Dixon, R. L., 1970, Perinatal differences in delta-aminolevulinic acid synthetase activity, Life Sci. 9(Pt. II):711–719.
Woods, J. S., and Dixon, R. L., 1972, Studies on the perinatal differences in the activity of hepatic δ-aminolevulinic acid synthetase, Biochem. Pharmacol. 21:1735–1744.
Woods, J. S., and Murthy, V. V., 1975, δ-Aminolevulinic acid synthetase from fetal rat liver: Studies on the partially purified enzyme, Mol. Pharmacol. 11:70–78.
Wu, W. H., Shemin, D., Richards, K. E., and Williams, R. C., 1974, The quaternary structure of δ-aminolevulinic acid dehydratase from bovine liver, Proc. Natl. Acad. Sci. USA 71:1767–1770.
Yamauchi, K., Hayashi, N., and Kikuchi, G., 1980, Translocation of δ-aminolevulinate synthase from the cytosol to the mitochondria and its regulation by hemin in the rat liver, J. Biol. Chem. 255:1746–1751.
Yannoni, C.A., and Robinson, S. H., 1975, Early-labelled haem in erythroid and hepatic cells, Nature 258:330–331.
Yoda, B., Schacter, B. A., and Israels, L. G., 1974, Induction of δ-aminolevulinic acid synthetase in the kidney of chicks treated with porphyrinogenic drugs, Biochim. Biophys. Acta 372:478–481.
Yoshikawa, H., and Yoneyama, Y., 1964, Incorporation of iron in the heme moiety of chromoproteins, in: Iron Metabolism (F. Gross, ed.), pp. 24–37, Springer-Verlag, Berlin.
Yoshinaga, T., and Sano, S., 1980, Coproporphyrinogen oxidase I. Purification, properties, reaction mechanism and activation by phospholipid, J. Biol. Chem. 255:4722–4726.
Zail, S. S., Krawitz, P., Viljoen, E., and Kramer, S., 1967, The anemia of erythropoietic porphyria. II. Studies of some red cell intermediates, Br. J. Haematol. 13:60–67.
Zimmerman, T. S., McMillin, J. M., and Watson, C. J., 1966, Onset of manifestations of hepatic porphyria in relation to the influence of female sex hormones, Arch. Intern. Med. 118:229–240.
Zinkl, J., and Kaneko, J. J., 1973, Erythrocytic enzymes and glycolytic intermediates in the normal bovine and in bovine erythropoietic porphyria, Comp. Biochem. Physiol. 45A:463–476.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1981 Plenum Press, New York
About this chapter
Cite this chapter
Sassa, S., Kappas, A. (1981). Genetic, Metabolic, and Biochemical Aspects of the Porphyrias. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 11. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8303-5_3
Download citation
DOI: https://doi.org/10.1007/978-1-4615-8303-5_3
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4615-8305-9
Online ISBN: 978-1-4615-8303-5
eBook Packages: Springer Book Archive