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Prenatal Diagnosis of Miscellaneous Biochemical Disorders

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Genetic Disorders and the Fetus

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Abstract

Both disorders of folate metabolism (Rowe, 1983; Niederwieser, 1979; Erbe, 1979) and those of cobalamin metabolism (Cooper, 1976; Rosenberg, 1983) are listed in (Table I). Recent advances in the prenatal diagnosis of methylmalonic aciduria, including vitamin B12-responsive forms, have been summarized (Sweetman, 1984).

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References

  • Allen, R. J., Wong, P. Rothenberg, S. P., et al., 1980, Progressive neonatal leukoencephalomyopathy due to absent methylenetetrahydrofolate reductase, responsive to treatment, Ann. Neurol. 8:211 (abstract).

    Google Scholar 

  • Ampola, M. G., Mahoney, M. J., Nakamura, E., et al., 1975, Prenatal therapy of a patient with vitamin B12-responsive methylmalonic acidemia, N. Engl. J. Med. 293:313.

    PubMed  CAS  Google Scholar 

  • Anthony, M., and McLeay, A. C., 1976, A unique case of derangement of vitamin B12 metabolism, Proc. Aust. Assoc. Neurol. 13:61.

    PubMed  CAS  Google Scholar 

  • Arakawa, T. S., 1970, Congenital defects in folate utilization, Am. J. Med. 48:594.

    PubMed  CAS  Google Scholar 

  • Batshaw, M. L., Thomas, G. H., and Cohen, S. R., 1984, Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin, J. inherited Metab. Dis. 7:65.

    PubMed  CAS  Google Scholar 

  • Baumgartner, E. R., Schweizer, K., and Wick, H., 1977, Different congenital forms of defective remethyla-tion in homocystinuria; clinical, biochemical, and morphologic studies, Pediatr. Res. 11:1015.

    Google Scholar 

  • Baumgartner, E. R., Wick, H., Maurer, R., et al., 1979, Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. I. Case report and histopathology, Helv. Paediatr. Acta 34:465.

    PubMed  CAS  Google Scholar 

  • Baumgartner, E. R., Stockstad, E. L. R., Wick, H., et al., 1985, Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies, Pediatr. Res. 19:1288.

    PubMed  CAS  Google Scholar 

  • Begley, J. A., Hall, C. A., and Scott, C. R., 1984, Absence of transcobalamin II from cord blood, Blood 63:490.

    PubMed  CAS  Google Scholar 

  • Branda, R. F., Moldow, C. F., MacArthur, J. R., et al., 1978, Folate-induced remission in aplastic anemia with familial defect of cellular folate uptake, N. Engl. J. Med. 298:469.

    PubMed  CAS  Google Scholar 

  • Buchanan, J. A., 1984, Fibroblast plasma membrane vesicles to study inborn errors of transport, Ph.D. thesis, Department of Biology, McGill University, p. 25.

    Google Scholar 

  • Burman, J. F., Mollin, D. L., Sourial, N. A., et al., 1979, Inherited lack of transcobalamin II in serum and megaloblastic anaemia: A further patient, Br. J. Haematol. 43:21.

    Google Scholar 

  • Carmel, R., and Goodman, S. I., 1982, Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: Divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man, Blood 59:306.

    PubMed  CAS  Google Scholar 

  • Carmel, R., Bedros, A. A., Mace, J. W., et al., 1980, Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: Observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test, Blood 55:570.

    PubMed  CAS  Google Scholar 

  • Christensen, E., and Brandt, N. J., 1985, Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency, N. Engl. J. Med. 313:50.

    PubMed  CAS  Google Scholar 

  • Cooper, B. A., 1976, Megaloblastic anaemia and disorders affecting utilization of vitamin B12 and folate in childhood, Clin. Haematol. 5:631.

    PubMed  CAS  Google Scholar 

  • Cooper, B. A., and Rosenblatt, D. S., 1976, Folate coenzyme forms in fibroblasts from patients deficient in 5,10 methylenetetrahydrofolate reductase, Biochem. Soc. Trans. 4:921.

    PubMed  CAS  Google Scholar 

  • Corbeel, L., Van den Berghe, G., Jaeken, J., et al., 1985, Congenital folate malabsorption, Eur. J. Pediatr. 143:284.

    PubMed  CAS  Google Scholar 

  • Dillon, M. J., England, J. M., and Gompertz, D., 1974, Mental retardation, megaloblastic anemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an inborn error in vitamin B12 metabolism, Clin. Sci. 47:43.

    CAS  Google Scholar 

  • Erbe, R. W., 1979, Genetic aspects of folate metabolism, in: Advances in Human Genetics (H. Harris and K. Hirschorn, eds.), p. 293, Plenum Press, New York.

    Google Scholar 

  • Fenton, W. A., and Rosenberg, L. E., 1981, The defect in the cbl B class of human methylmalonic acidemia: Deficiency of cob(I)alamin adenosytransferase activity in extracts of cultured fibroblasts, Biochem. Biophys. Res. Commun. 98:283.

    PubMed  CAS  Google Scholar 

  • Fràter-Schröder, M., 1983, Genetic patterns of transcobalamin II and the relationships with congenital defects, Molec. Cell. Biochem. 56:5.

    PubMed  Google Scholar 

  • Fràter-Schröder, M., Hirtzig, W. H., and Sacher, M., 1981, Inheritance of transcobalamin II (TC II) in two families with TC II deficiency and related immunodeficiency, J. Inherited Metab. Dis. 4:165.

    Google Scholar 

  • Fràter-Schröder, M., Luthy, R., Haurani, F. I., et al., 1982, Quantitative messung der neusynthese von transcobalamin II in der fifroblastenkultur—Bedeutung in der diagnose des transcobalamin-II-mangels, Schweiz. Med. Wochenschr. 109:1373.

    Google Scholar 

  • Fràter-Schröder, M., Porck, H. J., Erten, J., et al., 1985, Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells, Biochim. Biophys. Acta 845:421.

    PubMed  Google Scholar 

  • Freeman, J. M., Finkelstein, J. D., and Mudd, S. H., 1975, Folate-responsive homocystinuria and “schizo-prhenia.” A defect in methylation due to deficient 5,10-methylenetetrahydofolate reductase activity, N. Engl. J. Med. 292:491.

    PubMed  CAS  Google Scholar 

  • Friedman, P. A., Shia, M. A., and Wallace, J. K., 1977, A saturable high affinity binding site for transcobalamin II-vitamin B12 complexes in human placental membrane preparations, J. Clin. Invest. 59:51.

    PubMed  CAS  Google Scholar 

  • Gompertz, D., Goodey, P. A., Saudubray, J. M., et al., 1974, Prenatal diagnosis of methylmalonic aciduria, Pediatrics 54:511.

    PubMed  CAS  Google Scholar 

  • Goodman, S. I., Moe, P. G., Hammon, K. B., et al., 1970, Homocystinuria with methylmalonic aciduria: Two cases in a sibship, Biochem. Med. 4:500.

    PubMed  CAS  Google Scholar 

  • Hakami, N., Neiman, P. E., Canellos, G. P., et al., 1971, Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings, N. Engl. J. Med. 285:1163.

    PubMed  CAS  Google Scholar 

  • Hall, C. A., 1981, Congenital disorders of vitamin B12 transport and their contribution to concepts II, Yale J. Biol. Med. 54:485.

    PubMed  CAS  Google Scholar 

  • Harpey, J. P., Rosenblatt, D. S., Cooper, B. A., et al., 1981, Homocystinuria caused by 5,10 meth-ylenetetrahydrofolate reductase deficiency, J. Pediatr. 98:275.

    PubMed  CAS  Google Scholar 

  • Heisel, M. A., Siegel, S. E., Falk, R. E., et al., 1984, Congenital pernicious anemia: Report of seven patients, with studies of the extended family, J. Pediatr. 105:564.

    PubMed  CAS  Google Scholar 

  • Hitzig, W. H., 1974, Hereditary transcobalamin II deficiency—Clinical findings in a new family, J. Pediatr. 85:622.

    PubMed  CAS  Google Scholar 

  • Kanwar, Y. S., Manaligod, J. R., and Wong, P. W. K., 1976, Morphologic studies in a patient with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency, Pediatr. Res. 10:598.

    PubMed  CAS  Google Scholar 

  • Levy, H. L., Mudd, S. H., Schulman, J. D., et al., 1970, A derangement in B12 metabolism associated with homocystinuria, cystathioninuria, hypomethioninemia, and methylmalonic aciduria, Am. J. Med. 48:390.

    PubMed  CAS  Google Scholar 

  • Linnell, J. C., Miranda, B., Bhatt, H. R., et al., 1983, Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria, and methylmalonic aciduria, J. Inherited Metab. Dis. 6:137.

    Google Scholar 

  • Mahoney, M. J., Rosenberg, L. E., Lindblad, B., 1975, Prenatal diagnosis of methylmalonic aciduria, Acta Paediatr. Scand. 64:44.

    PubMed  CAS  Google Scholar 

  • Matsui, S. M., Mahoney, M. J., and Rosenberg, L. E., 1983, The natural history of the inherited methylmalonic acidurias, N. Engl. J. Med. 308:857.

    PubMed  CAS  Google Scholar 

  • Matthews, D. M., and Linnel, J. C., 1982, Cobalamin deficiency and related disorders in infancy and childhood, Eur. J. Pediatr. 138:6.

    PubMed  CAS  Google Scholar 

  • McKusick, V. A., 1983, Mendelian Inheritance in Man, Catalogs of Autosomal Recessive and X-linked Phenotypes, 6th ed., The Johns Hopkins University Press, Baltimore, Maryland.

    Google Scholar 

  • Mellman, I. H., Willard, P., and Rosenberg, L. E., 1979, Cobalamin coenzyme synthesis in normal and mutant human fibroblasts; evidence for a processing enzyme activity deficient in cbl C cells, J. Biol. Chem. 254:11847.

    PubMed  CAS  Google Scholar 

  • Morrow, G., III, Schwartz, R. H., Hallock, J. A., et al., 1970, Prenatal detection of methylmalonic acidemia, J. Pediatr. 77:120.

    Google Scholar 

  • Morrow, G., III, Revsin, B., Lebovitz, J., et al., 1977, Detection of errors in methylmalonyl-CoA metabolism by using amniotic fluid, Clin. Chem. 23:791.

    PubMed  CAS  Google Scholar 

  • Mudd, S. H., 1974, Homocystinuria and homocysteine metabolism: Selected aspects, in: Heritable Disorders of Amino Acid Metabolism (W. L. Nyham, ed.), p. 429, Wiley, New York.

    Google Scholar 

  • Mudd, S. H., Uhlendorf, B. W., Freeman, J. M., et al., 1972, Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity, Biochem. Biophys. Res. Commun. 46:905.

    PubMed  CAS  Google Scholar 

  • Narisawa, K. Y., Wada, T., Saito, H., et al., 1977, Infantile type of homocystinuria with N 5,10-meth-yleneterahydrofolate reductase defect, Tohoku J. Exp. Med. 121:185.

    PubMed  CAS  Google Scholar 

  • Niederwieser, A., 1979, Inborn errors of pterin metabolism, in: Folic Acid in Neurology, Psychiatry, and Internal Medicine (M. I. Botez and E. H. Reynolds, eds.), p. 349, Raven Press, New York.

    Google Scholar 

  • Poncz, M., Colman, N., Schwartz, E., et al., 1981, Therapy of congenital folate malabsorption, J. Pediatr. 98:76.

    PubMed  CAS  Google Scholar 

  • Porck, H. J., Fràter-Schröder, M., Frants, K. I., et al., 1983, Genetic evidence for fetal origin of trans-cobalamin II in human cord blood, Blood 62:234.

    PubMed  CAS  Google Scholar 

  • Ribes, A., Vilaseca, A., Briones, P., et al., 1984, Methylmalonic aciduria with homocystinuria, J. Inherited Met. Dis. 7:129.

    Google Scholar 

  • Rosenberg, L. E., 1983, Disorders of propionate and methylmalonate metabolism, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, D. S. Fredrickson, J. L. Goldstein, et al., eds.), 5th ed., p. 491, McGraw-Hill, New York.

    Google Scholar 

  • Rosenblatt, D. S., and Erbe, R. W., 1977, Methylenetetrahydrofolate reductase in cultured human cells. II. Studies of methylenetetrahydrofolate reductase deficiency, Pediatr. Res. 11:1141.

    PubMed  CAS  Google Scholar 

  • Rosenblatt, D. S., Cooper, B. A., Lue-Shing, S., et al., 1979, Folate distribution in cultured human fibroblasts. Studies on 5,10-CH2-H4PteGlu reductase deficiency, J. Clin. Invest. 63:1019.

    PubMed  CAS  Google Scholar 

  • Rosenblatt, D. S., Cooper, B. A., Pottier, A., et al., 1984, Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis, J. Clin. Invest. 74:2149.

    PubMed  CAS  Google Scholar 

  • Rosenblatt, D. S., Hosack, A., Matiaszuk, N. V., et al., 1985a, Defect in vitamin B12 release from lysosomes: Newly described inborn error of vitamin B12 metabolism, Science 228:1319.

    PubMed  CAS  Google Scholar 

  • Rosenblatt, D. S., Cooper, B. A., Schmutz, S. M., et al., 1985b, Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease), Lancet 1:1127.

    PubMed  CAS  Google Scholar 

  • Rowe, P. B., 1983, Inherited disorders of folate metabolism, in: The Metabolic Basis of Inherited Disease, 5th ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 498, McGraw-Hill, New York.

    Google Scholar 

  • Schuh, S., Rosenblatt, D. S., Cooper, B. A., et al., 1984, Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy; an inborn error of metabolism due to a defect in cobalamin metabolism, N. Engl. J. Med. 310:686.

    PubMed  CAS  Google Scholar 

  • Seligman, P. A., Steiner, L. L., and Allen, R. H., 1980, Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II, N. Engl. J. Med. 303:1209.

    PubMed  CAS  Google Scholar 

  • Shinnar, S., and Singer, H. S., 1984, Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence, N. Engl. J. Med. 311:451.

    PubMed  CAS  Google Scholar 

  • Sweetman, L., 1984, Prenatal diagnosis of organic acidurias, J. Inherited Metab. Dis. 7:18.

    PubMed  Google Scholar 

  • Sweetman, L., Naylor, G., and Ladner, T., 1982, Prenatal diagnosis of propionic and methylmalonic acidemia by stable isotope dilution analysis of methylcitric and methylmalonic acids in amniotic fluid, in: Stable Isotopes (H.-L. Schmidt, H. Forstel, and K. Heinzinger, eds.), p. 287, Elsevier, Amsterdam.

    Google Scholar 

  • Thomas, P. K., Hoffbrand, A. V., and Smith, I. S., 1982, Neurological involvement in hereditary transcobalamin II deficiency, J. Neurol. Neurosurg. Psych. 45:74.

    CAS  Google Scholar 

  • Trefz, F. K., Schmidt, H., Tauscher, B., et al., 1981, Improved prenatal diagnosis of methylmalonic acidemia: Mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine, Eur. J. Pediatr. 137:261.

    PubMed  CAS  Google Scholar 

  • Willard, H. F., Ambani, L. M., Hart, A. C., et al., 1976, Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate and cobalamin metabolism: A sensitive assay using cultured cells, Hum. Genet. 34:277.

    PubMed  CAS  Google Scholar 

  • Willard, H. F., Mellman, I. H., and Rosenberg, L. E., 1978, Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: Evidence for a new class of human cobalamin mutant, Am. J. Hum. Genet. 30:1.

    PubMed  CAS  Google Scholar 

  • Wong, P. W. K., Justice, M., Hruby, E. B., et al., 1977a, Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency, Pediatrics 59:749.

    PubMed  CAS  Google Scholar 

  • Wong, P. W. K., Justice, P., and Berlow, S., 1977b, Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency, J. Lab. Clin. Med. 90:283.

    PubMed  CAS  Google Scholar 

  • Zinn, A. B., Hine, D. G., Mahoney, M. J., et al., 1982, The stable isotope dilution method for measurement of methylmalonic acid: A highly accurate approach to the prenatal diagnosis of methylmalonic acidemia, Pediatr. Res. 16:740.

    PubMed  CAS  Google Scholar 

  • Aitken, D. A., Kleijer, W. J., Niermeijer, M. F., et al., 1980, Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay, Clin. Genet. 17:293.

    PubMed  CAS  Google Scholar 

  • Chen, S. H., Scott, R., and Swedberg, K. R., 1975, Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells, Am. J. Hum. Genet. 27:46.

    PubMed  CAS  Google Scholar 

  • Coleman, M. S., and Hutton, J. J., 1975, Micromethod for quantitation of adenosine deaminase activity in cells from human peripheral blood, Biochem. Med. 13:46.

    PubMed  CAS  Google Scholar 

  • Durandy, A., Oury, C., Griscelli, C., et al., 1982a, Prenatal testing for inherited immune deficiencies by fetal blood sampling, Prenat. Diagn. 2:109.

    PubMed  CAS  Google Scholar 

  • Durandy, A., Dumez, Y., Guy-Grand, D., et al., 1982b, Prenatal diagnosis of severe combined immunodeficiency, J. Pediatr. 101:995.

    PubMed  CAS  Google Scholar 

  • Edwards, Y. H., Hopkinson, D. A., and Harris, H., 1971, Adenosine deaminase isozymes in human tissues, Ann. Hum. Genet. (Lond.) 35:207.

    CAS  Google Scholar 

  • Giblett, E. R., Anderson, J. E., Cohen, F., et al., 1972, Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, Lancet 2:1067.

    PubMed  CAS  Google Scholar 

  • Giblett, E. R., Ammann, A. J., Wara, D. W., et al., 1975, Nucleoside Phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity, Lancet 2:1010.

    Google Scholar 

  • Hirschhorn, R., 1975, Incidence and prenatal detection of adenosine deaminase deficiency and purine nucleoside Phosphorylase deficiency, in: Inborn Errors of Specific Immunity, p. 5, Academic Press, New York.

    Google Scholar 

  • Hirschhorn, R., 1986, Prenatal detection of ADA deficiency, submitted.

    Google Scholar 

  • Hirschhorn, R., and Beratis, N., 1973, Severe combined immunodeficiency and adenosine deaminase deficiency, Lancet 2:1217.

    PubMed  CAS  Google Scholar 

  • Hirschhorn, R., and Hirschhorn, K., 1983, Immunodeficiency disorders, in: The Principles and Practice of Medical Genetics (A. E. H. Emery and D. L. Rimoin, eds.), p. 1091, Churchill Livingstone, Edinburgh.

    Google Scholar 

  • Hirschhorn, R., and Ratech, H., 1980, Isozymes of adenosine deaminase, in: Isozymes: Current Topics in Biological and Medical Research, Vol. 4 (M. C. Rattazzi, J. G. Scandalios, and G. S. Whitt, eds.), p. 131, Liss, New York.

    Google Scholar 

  • Hirschhorn, R., Beratis, N., Rosen, F. S., et al., 1975, Adenosine deaminase deficiency in a child diagnosed prenatally, Lancet 1:73.

    PubMed  CAS  Google Scholar 

  • Hirschhorn, R., Beratis, N. G., and Martiniuk, F., 1978, Adenosine deaminase: Alterations in activity and isozymes during growth of normal and genetically deficient fibroblasts, Exp. Cell Res. 117:103.

    PubMed  CAS  Google Scholar 

  • Hirschhorn, R., Roegner, V., Jenkins, T., et al., 1979, Erythrocyte adenosine deaminase deficiency without immunodeficiency: Evidence for an unstable mutant enzyme, J. Clin. Invest. 64:1130.

    PubMed  CAS  Google Scholar 

  • Hopkinson, D. A., Cook, P. J. L., and Harris, H., 1969, Further data on the adenosine deaminase polymorphism and a report of a new phenotype, Ann. Hum. Genet. 32:361.

    PubMed  CAS  Google Scholar 

  • Kredich, N. M., and Hershfield, M. S., 1983, Immunodeficiency disease caused by adenosine deaminase deficiency and purine nucleoside Phosphorylase deficiency, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 1157, McGraw-Hill, New York.

    Google Scholar 

  • Levinsky, R. J., Linch, D. C., Beverly, C. L., et al., 1982, Prenatal exclusion of severe combined immunodeficiency, Arch. Dis. Child. 57:958.

    PubMed  CAS  Google Scholar 

  • Linch, D., Beverley, P., Levinsky, R., et al., 1982a, Prenatal diagnosis of severe combined immunodeficiency, Lancet 1:1130.

    PubMed  CAS  Google Scholar 

  • Linch, D. C., Beverley, C. L., Levinsky, R., et al., 1982b, Phenotype analysis of fetal blood leucocytes: Potential for prenatal diagnosis of immunodeficiency disorders, Prenat. Diagn. 2:211.

    PubMed  CAS  Google Scholar 

  • Linch, D. C., Levinsky, R. J., Rodeck, C. H., et al., 1984, Prenatal diagnosis of three cases of severe combined immunodeficiency: Severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency, Clin. Exp. Immunol. 56:223.

    PubMed  CAS  Google Scholar 

  • Newburger, P. E., Cohen, H. J., Rothschild, S. B., et al., 1979, Prenatal diagnosis of chronic granulomatous disease, N. Engl. J. Med. 300:178.

    PubMed  CAS  Google Scholar 

  • Orkin, S. H., Daddona, P. E., Shewach, D. S., et al., 1983, Molecular cloning of human adenosine deaminase gene sequences, J. Biol. Chem. 258:12753.

    PubMed  CAS  Google Scholar 

  • Pollack, M. S., Maurer, D. H., LeBlanc, D., et al., 1983, HLA typing of amniotic fluid cells for the prenatal determination therapeutic transplantation options for a fetus affected with adenosine deaminase deficiency, Transplantation 36:336.

    PubMed  CAS  Google Scholar 

  • Schmalstieg, F. C., Mills, G. C., Tsuda, H., et al., 1983, Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother, Pediatr. Res. 17:935.

    PubMed  CAS  Google Scholar 

  • Stout, J. T., Jackson, L. G., and Caskey, C. T., 1985, First trimester diagnosis of Lesch-Nyhan syndrome: Applications to other disorders of purine metabolism, Prenat. Diagn. 5:183.

    PubMed  CAS  Google Scholar 

  • Touraine, J. L., Betuel, H., Souillet, G., 1978, Combined immunodeficiency disease associated with absence of cell surface HLA-A and B antigens, J. Pediatr. 93:47.

    PubMed  CAS  Google Scholar 

  • Uitendaal, M. P., de Bruyn, C. H. M. M., Oei, J. T., et al., 1978, Fluctuating adenosine deaminase activities in cultured fibroblasts, Biochem. Med. 20:54.

    CAS  Google Scholar 

  • Valerio, D., Duyvvesteyn, M. G. C., Meera Khan, P., et al., 1983, Isolation of cDNA clones for human adenosine deaminase, Gene 25:231.

    PubMed  CAS  Google Scholar 

  • Wiginton, D. A., Adrian, G. S., Friedman, R. L., et al., 1983, Cloning of cDNA sequences of human adenosine deaminase, Proc. Natl. Acad. Sci. USA 80:7481.

    PubMed  CAS  Google Scholar 

  • Ziegler, J. B., Van Der Weyden, M. B., Lee, C. H., et al., 1981, Prenatal diagnosis for adenosine deaminase deficiency, J. Med. Genet. 18:154.

    PubMed  CAS  Google Scholar 

  • Aaron, K., Goldman, H., and Scriver, C. R., 1971, Cystinosis; new observations: 1. Adolescent (type III) form. 2. Correction of phenotypes in vitro with dithiothreitol, in: Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds.), p. 150, Churchill Livingstone, Edinburgh.

    Google Scholar 

  • Advisory Committee to the Renal Transplant Registry, 1975, Renal transplantation in congenital and metabolic diseases: A report from the ASC/NIH Renal Transplant Registry, 7. Arn. Med. Assoc. 232:148.

    Google Scholar 

  • Bickel, H., 1955, Die Entwicklung der biochemischen Lasion bei der Lignac-Franconischen Krankheit, Helv. Paediatr. Acta 10:259.

    PubMed  CAS  Google Scholar 

  • Brubaker, R. F., Wong, V. G., Schulman, J. D., et al., 1970, Benign cystinosis: The clinical biochemical and morphologic findings in a family with two affected siblings, Am. J. Med. 49:546.

    PubMed  CAS  Google Scholar 

  • Gahl, W. A., Teitze, F., Bashan, N., et al., 1982a, Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leukocytes, J. Biol. Chem. 257:9570.

    PubMed  CAS  Google Scholar 

  • Gahl, W. A., Bashan, N., Tietze, F., et al., 1982b, Lysosomal cystine transport is defective in cystinosis, Science 217:1263.

    PubMed  CAS  Google Scholar 

  • Gahl, W. A., Tietze, F., Bashan, N., et al., 1983, Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leukocyte granular fractions, Biochem J. 216:393.

    PubMed  CAS  Google Scholar 

  • Gahl, W. A., Bashan, N., Tietze, F., et al., 1984, Lysosomal cystine counter-transport in heterozygotes for cystinosis, Am. J. Hum. Genet. 36:277.

    PubMed  CAS  Google Scholar 

  • Goldman, H., Scriver, C. R., Aaron, K., et al., 1970, Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts, Lancet 1:811.

    PubMed  CAS  Google Scholar 

  • Goldman, H., Scriver, C. R., Aaron, K., et al., 1971, Adolescent cystinosis: Comparisons with infantile and adult forms, Pediatrics 47:979.

    PubMed  CAS  Google Scholar 

  • Goldman, H., DePage-Brigger, D., Delvin, E., et al., 1974, Long-term use of oral dithiothreitol (DTT) in nephropathic cystinosis, Clin. Res. 22:740A.

    Google Scholar 

  • Hooft, C., Carton, D., DeSchrijver, F., et al., 1971, Juvenile cystinosis in two siblings, in: Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds.), p. 141, Churchill Livingstone, Edinburgh.

    Google Scholar 

  • Kaye, C. I., and Nadler, H. L., 1976, Transport of L-cystine by cultivated skin fibroblasts of normal subjects and patients with cystinosis, Pediatr. Res. 10:637.

    PubMed  CAS  Google Scholar 

  • Kroll, W. A., and Lichte, K.-H., 1973, Cystinosis: A review of the different forms and of recent advances, Humangenetik 20:75.

    PubMed  CAS  Google Scholar 

  • Kroll, W. A., and Schneider, J. A., 1974, Decrease in free cystine content of cultured cystinotic fibroblasts by ascorbic acid, Science 86:1040.

    Google Scholar 

  • Kroll, W. A., Lichte, K.-H., Lutz, P., et al., 1973, Cystinosis: Quantitative assay of cystine accumulation of homozygotes and heterozygotes, Humangenetik 17:337.

    PubMed  CAS  Google Scholar 

  • Lietman, P. S., Frazier, P. D., Wong, V. G., et al., 1966, Adult cystinosis—A benign disorder, Am. J. Med. 40:511.

    PubMed  CAS  Google Scholar 

  • Oshima, R. G., Willis, R. C., Furlong, C. E., et al., 1974, Binding assays for amino acids, J. Biol. Chem. 249:6033.

    PubMed  CAS  Google Scholar 

  • Oshima, R. G., Rhead, W. J., Theone, J. G., et al., 1976, Cystine metabolism in human fibroblasts: Comparison of normal, cystinotic, and γ-glutamylcysteine synthetase-deficient cells, J. Biol. Chem. 251:4287.

    PubMed  CAS  Google Scholar 

  • Pittman, G., Deodhar, S., Schulman, J. D., et al., 1971, Nephropathic cystinosis in a young adult—Report of a case, Lab. Invest. 24:442

    Google Scholar 

  • Schneider, J. A., Bradley, K., and Seegmiller, J. E., 1967a, Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis, Science 157:1321.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Rosenbloom, F. M., Bradley, K. H., et al., 1967b, Increased free cystine content of fibroblasts cultured from patients with cystinosis, Biochem. Biophys. Res. Commun. 29:527.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Bradley, K. G., and Seegmiller, J. E., 1968a, Transport and intracellular fate of cysteine-35S in leukocytes from normal subjects and patients with cystinosis, Pediatr. Res. 2:441.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Wong, V., Bradley, K., et al., 1968b, Biochemical comparisons of the adult and childhood forms of cystinosis, N. Engl. J. Med. 279:1253.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Wong, V., and Seegmiller, J. E., 1969, The early diagnosis of cystinosis, J. Pediatr. 74:114.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Verroust, F. M., Kroll, W. A., et al., 1974, Prenatal diagnosis of cystinosis, N. Engl. J. Med. 290:878.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Schulman, J. D., and Seegmiller, J. E., 1978, Cystinosis and the Fanconi syndrome, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), p. 1660, McGraw-Hill, New York.

    Google Scholar 

  • Schulman, J. D., and Bradley, K. H., 1970, The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis, J. Exp. Med. 132:1090.

    PubMed  CAS  Google Scholar 

  • Schulman, J. D., Fujimoto, W. Y., Bradley, K. H., et al., 1970a, Identification of heterozygous genotype for cystinosis in utero using a new pulse-labeling technique: Preliminary report, J. Pediatr. 77:468.

    PubMed  CAS  Google Scholar 

  • Schulman, J. D., Wong, V. G., Kuwabara, T., et al., 1970b, Intracellular cystine content of leukocyte populations in cystinosis, Arch. Intern. Med. 125:660.

    PubMed  CAS  Google Scholar 

  • States, B., Blazer, B., Harris, D., et al., 1975, Prenatal diagnosis of cystinosis, J. Pediatr. 87:558.

    PubMed  CAS  Google Scholar 

  • Thoene, J. G., Oshima, R. G., Crawhall, J. C., et al., 1976, Intracellular cystine depletion by amniothiols in vitro and in vivo, J. Clin. Invest. 58:180.

    PubMed  CAS  Google Scholar 

  • Thoene, J. G., Oshima, R. G., Ritchie, D. G., et al., 1977, Cystinotic fibroblasts accumulate cystine from intracellular protein degradation, Proc. Natl. Acad. Sci. USA 74:4505.

    PubMed  CAS  Google Scholar 

  • West, C. D., Blanton, J. C., Silverman, F. N., et al., 1964, Use of phosphate salts as an adjunct to vitamin D in the treatment of hypophosphatemic vitamin D refractory rickets, J. Pediatr. 64:649.

    Google Scholar 

  • Wilcox, P., and Patrick, A. D., 1974, Biochemical diagnosis of cystinosis using cultured cells, Arch. Dis. Child. 49:209.

    Google Scholar 

  • Wilcox, P., and Patrick, A. D., 1975, Biochemical diagnosis of cystinosis using leucocytes, Acta Paediatr. Scand. 64:132.

    Google Scholar 

  • Aebi, H., and Suter, H., 1971, Acatalasemia, in: Advances in Human Genetics, Vol. 2 (H. Harris and K. Hirschhorn, eds.), p. 143, Plenum Press, New York.

    Google Scholar 

  • Aebi, H., and Wyss, S., 1978, Acatalasemia, in: The Metabolic Basis of Inherited Disease (J. Stanbury, J. Wyngaarden, and D. Fredrickson, eds.), p. 1792, McGraw-Hill, New York.

    Google Scholar 

  • Barthelemy, H., Claudy, A., Lauras, B., et al., 1983, Prenatal diagnosis of xeroderma pigmentosum, Arch. Fr. Pediatr. 40:198.

    PubMed  CAS  Google Scholar 

  • Blau, K., Hoar, D., Rattenbury, J., et al., 1977, Prenatal diagnosis of hypophosphatasia, Lancet 2:1139.

    PubMed  CAS  Google Scholar 

  • Bonkowsky, H., Bloomer, J., and Ebert, P., 1975, Heme synthetase deficiency in human protoporphyria, J. Clin. Invest. 56:1139.

    PubMed  CAS  Google Scholar 

  • Clark, A. C., and Szobolotzky, M. A., 1985, Triose phosphate isomerase deficiency: Prenatal diagnosis, J. Pediatr. 106:417.

    PubMed  CAS  Google Scholar 

  • Cleaver, J., 1970, DNA damage and repair in light-sensitive human skin disease, J. invest. Dermatol. 54:181.

    PubMed  CAS  Google Scholar 

  • DeGoeij, A., Smit, S., and van Steveninck, J., 1977, Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria, Clin. Chim. Acta 74:27.

    CAS  Google Scholar 

  • Deybach, J., Grandchamp, B., and Grelier, M., 1980, Prenatal exclusion of congenital erythopoietic porphyria (Gunther’s disease) in a fetus at risk, Hum. Genet. 53:217.

    PubMed  CAS  Google Scholar 

  • Elejalde, B., Mercedes de Elejalde, M., and Leno, J., 1985a, Nuchal cysts syndromes: Etiology, pathogenesis, and prenatal diagnosis, Am. J. Med. Genet. 21:417.

    PubMed  CAS  Google Scholar 

  • Elejalde, B., Mercedes de Elejalde, M., and Pansch, D., 1985b, Prenatal diagnosis of Jeune syndrome, Am. J. Med. Genet. 21:433.

    PubMed  CAS  Google Scholar 

  • Elejalde, B., Mercedes de Elejalde, M., Booth, C., et al., 1985c, Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis), Am. J. Med. Genet. 21:439.

    PubMed  CAS  Google Scholar 

  • Fainaru, M., Deckelbaum, R., and Golbus, M., 1981, Apolipoproteins in human fetal blood and amniotic fluid in mid-trimester pregnancy, Prenat. Diagn. 1:125.

    PubMed  CAS  Google Scholar 

  • Feldman, E., Shaley, E., Weiner, E., et al., 1985, Microphthalmia—Prenatal ultrasonic diagnosis: A case report, Prenat. Diagn. 5:205.

    PubMed  CAS  Google Scholar 

  • Freij, B. J., Levy, H. L., Dudin, G., et al., 1984, Clinical and biochemical characteristics of prolidase deficiency in siblings, Am. J. Med. Genet. 19:561.

    PubMed  CAS  Google Scholar 

  • Horn, N., 1981, Menkes’ X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females, J. Prenat. Diagn. 1:107.

    CAS  Google Scholar 

  • Hunt MacMillan, R., Harbert, G., Davis, W., et al., 1985, Prenatal diagnosis of Pena-Shokeir syndrome, Am. J. Med. Genet. 21:279.

    Google Scholar 

  • Kahn, A., Van Biervliet, J. P., Vives-Corrons, J. L., et al., 1977, Genetic and molecular mechanisms of the congenital defects in glucose phosphate isomerase activity: Studies of four families, Pediatr. Res. 11:1123.

    PubMed  CAS  Google Scholar 

  • Kaiser, I., 1980, Brown amniotic fluid in congenital erythropoietic porphyria, Obstet, Gynecol. 56:383.

    CAS  Google Scholar 

  • Kerr Wilson, R., Duncan, A., Hume, R., et al., 1985, Prenatal pleural effusion associated with congenital pulmonary lymphangiectasia, Prenat. Diagn. 5:73.

    Google Scholar 

  • Kousseff, B., and Mulivor, R., 1981, Prenatal diagnosis of hypophosphatasia, Obstet. Gynecol. 57:95.

    Google Scholar 

  • Lehmann, A., Francis, A., and Giannelli, F., 1985, Prenatal diagnosis of Cockayne’s syndrome, Lancet 2:486.

    Google Scholar 

  • Magnusson, R., Levine, J., Doherty, J., et al., 1974, A red cell enzyme method for the diagnosis of acute intermittent porphyria, Blood 44:857.

    Google Scholar 

  • Meister, A., 1978, 5-Oxoprolinuria (pyroglutamic aciduria) and other disorders of glutathione biosynthesis, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrick-son, eds.), p. 328, McGraw-Hill, New York.

    Google Scholar 

  • Mohler, D. N., Majerus, P. W., Minnich, V., et al., 1970, Glutathione synthetase deficiency as a cause of hereditary hemolytic disease, N. Engl. J. Med. 238:1253.

    Google Scholar 

  • Mulivor, R. Z., Mennuti, M., Zackai, E. H., et al., 1978, Prenatal diagnosis of hypophosphatasia: Genetic biochemical and clinical studies, Am. J. Hum. Genet. 30:271.

    PubMed  CAS  Google Scholar 

  • Nadler, H. L., and Egan, T. J., 1970, Deficiency of lysosomal acid phosphatase: A new familial metabolic disorder, N. Engl. J. Med. 282:302.

    PubMed  CAS  Google Scholar 

  • Nitowsky, H., Sassa, S., Nakagawa, A., et al., 1978, Prenatal diagnosis of congenital erythropoietic porphyria, Pediatr. Res. 12:455.

    Google Scholar 

  • Pettit, B. R., MacKenzie, F., King, G. S., et al., 1984, The antenatal diagnosis and aid to management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone, J. Inherited Metab. Dis. 7(Suppl. 2):135.

    PubMed  CAS  Google Scholar 

  • Pettit, B. R., Kvittingen, E. A., and Leonard, J. V., 1985, Early prenatal diagnosis of hereditary tyrosinaemia, Lancet 1:1038.

    PubMed  CAS  Google Scholar 

  • Ramsay, C. A., Coltart, T. M., Blunt, S., et al., 1974, Prenatal diagnosis of xeroderma pigmentosum: Report of the first successful case, Lancet 2:1109.

    PubMed  CAS  Google Scholar 

  • Rausch, P. G., Pryzwansky, K. B., and Spitznagel, J. K., 1978, Immunocytochemical identification of azurophilic and specific granule markers in the giant granules of Chediak-Higashi neutrophils, N. Engl. J. Med. 298:693.

    PubMed  CAS  Google Scholar 

  • Renwick, J. H., 1969, Progress in mapping human autosomes, Br. Med. Bull. 25:65.

    PubMed  CAS  Google Scholar 

  • Romeo, G., Kaback, M. M., and Levin, E. Y., 1970, Uroporphyrinogen. III. Cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria, Biochem. Genet. 4:659.

    PubMed  CAS  Google Scholar 

  • Sassa, S., Solish, G., Levere, R. D., et al., 1975, 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.

    PubMed  CAS  Google Scholar 

  • Sassa, S., Zalar, G., and Kappas, A., 1978, Studies in porphyria VIII: 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.

    PubMed  CAS  Google Scholar 

  • Sassa, S., Zalar, G., Poh-Fitzpatrick, M., et al., 1982, Studies in porphyria X: Functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria, J. Clin. Invest. 69(4):809.

    PubMed  CAS  Google Scholar 

  • Schwartz, S., Flannery, D., and Cohen, M., 1985, Tests appropriate for the prenatal diagnosis of ataxia telangiectasia, Prenat. Diagn. 5:9.

    PubMed  CAS  Google Scholar 

  • Shaham, M., Voss, R., Becker, Y., et al., 1982, Prenatal diagnosis of ataxia telangiectasia, J. Pediatr. 100:134.

    PubMed  CAS  Google Scholar 

  • Socol, M. L., Sabbagha, R. E., Elias, S., et al., 1985, Prenatal diagnosis of congenital muscular dystrophy producing arthrogryposis, N. Engl. J. Med. 313:1230.

    PubMed  CAS  Google Scholar 

  • Sugita, T., Ikenaga, M., Suehara, N., et al., 1982, Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet-irradiated cells, Clin. Genet. 22:137.

    PubMed  CAS  Google Scholar 

  • Tonnesen, T., Horn, N., Sondergaard, F., et al., 1985, Measurement of copper in chorionic villi for first trimester diagnosis of Menkes’ disease, Lancet 1:1038.

    PubMed  CAS  Google Scholar 

  • Umemura, S., 1978, Studies on a patient with iminodipeptiduria. II. Lack of prolidase activity in blood cells, Physiol. Chem. Phys. 10:279.

    PubMed  CAS  Google Scholar 

  • Valentine, W. N., and Tanaka, K. R., 1978, Pyruvate kinase and other enzyme deficiency hereditary hemolytic anemias, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), p. 1423, McGraw-Hill, New York.

    Google Scholar 

  • Warren, R. C., MacKenzie, C. F., Rodeck, C. H., et al., 1985, First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase, Lancet 2:856.

    PubMed  CAS  Google Scholar 

  • Weinstein, L., and Anderson, C., 1980, In utero diagnosis of Beckwith-Wiedmann syndrome by ultrasound, Radiology 134:474.

    PubMed  CAS  Google Scholar 

  • Wellner, V. P., Sekura, R., Meister, A., et al., 1974, Glutathione synthetase deficiency, an inborn error of metabolism involving the γ-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria, Proc. Natl. Acad. Sci. USA 71:2505.

    PubMed  CAS  Google Scholar 

  • Witkop, C. J., Jr., Quevedo, W. C., Jr., and Fitzpatrick, T. B., 1978, Albinism, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), p. 283, McGraw-Hill, New York.

    Google Scholar 

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Authors and Affiliations

  1. Division of Medical Genetics, Department of Medicine, Centre for Human Genetics, MRC Genetics Group, McGill University-Montreal Children’s Hospital Research Institute, Montreal, Quebec, H3G 1A4, Canada

    David S. Rosenblatt

  2. Departments of Pediatrics and Biology, McGill University, Montreal, Quebec, H3G 1A4, Canada

    David S. Rosenblatt

  3. Department of Medicine, New York University Medical Center, New York, New York, 10016, USA

    Rochelle Hirschhorn

  4. Genetics and IVF Institute, and Departments of Human Genetics, Pediatrics, and Obstetrics and Gynecology, Medical College of Virginia, Fairfax, Virginia, 22031, USA

    Joseph D. Schulman

  5. Departments of Pediatrics, Obstetrics-Gynecology, and Pathology, Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, 02118, USA

    Aubrey Milunsky

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  1. Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA

    Aubrey Milunsky MB.B.Ch., D.Sc., F.R.C.P., D.C.H. (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director) (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director)

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© 1986 Aubrey Milunsky

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Rosenblatt, D.S., Hirschhorn, R., Schulman, J.D., Milunsky, A. (1986). Prenatal Diagnosis of Miscellaneous Biochemical Disorders. In: Milunsky, A. (eds) Genetic Disorders and the Fetus. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5155-9_14

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