Galactose metabolism, hereditary defects and their clinical significance

  • R. Gitzelmann
  • R. G. Hansen


Most galactose in the diet is in the form of the disaccharide lactose, which is synthesized in the mammary gland, mainly from glucose. Lactose is the primary carbohydrate source for nursing mammals and it provides about 40% of the energy in human milk. Why lactose evolved as the unique carbohydrate of milk is unclear, especially since most individuals can meet their galactose needs by biosynthesis from glucose. The simultaneous occurrence of calcium and lactose in milk may be of evolutionary significance. Lactose, in contrast to other saccharides, appears to enhance the absorption of calcium1,2. In man, calcium absorption may be associated with the hydrolysis of lactose3.


Carbohydrate Metabolism Uridine Diphosphate Nuclear Cataract Galactose Metabolism Leloir Pathway 
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  1. 1.
    F. W. Lengemann, R. H. Wasserman and C. L. Comar, (1959). Studies on the enhancement of radiocalcium and radiostrontium absorption by lactose in the rat. J. Nutr., 68, 443PubMedGoogle Scholar
  2. 2.
    P. Fournier, Y. Dupins and A. Fournier, (1971). Effect of lactose on the absorption of alkaline earth metals and intestinal lactase activity. Isr. J. Med. Sci., 7, 389PubMedGoogle Scholar
  3. 3.
    J. R. Condon, J. R. Nassim, F. I. C. Millard, A. Hilbe and E. M. Stainthorpe, (1970). Calcium and phosphorus metabolism in relation to lactose tolerance. Lancet, 1, 1027PubMedCrossRefGoogle Scholar
  4. 4.
    D. Miller and R. K. Crane, (1961). The digestive function of the epithelium of the small intestine. II. Localization of disaccharide hydrolysis in the isolated brush border of intestinal epithelial cells. Biochim. Biophys. Acta, 52, 293PubMedCrossRefGoogle Scholar
  5. 5.
    F. J. Simoons, (1970). Primary adult lactose intolerance and the milking habit: a problem in biologic and cultural interrelations. II. A culture historical hypothesis. Am. J. Dig. Dis., 15, 695PubMedCrossRefGoogle Scholar
  6. 6.
    R. O. Brady, (1973). Inborn errors of lipid metabolism. Adv. Enzymol, 38, 293PubMedGoogle Scholar
  7. 7.
    R. O. Brady, (1978). Sphingolipidoses. Annu. Rev. Biochem., 47, 687PubMedCrossRefGoogle Scholar
  8. 8.
    C. C. Sweeley and B. Klionsky, (1963). Fabry’s disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem., 238, 3148PubMedGoogle Scholar
  9. 9.
    R. G. Hansen, H. G. Wood, G. J. Peeters, B. Jacobson and J. Wilken, (1962). Lactose synthesis. VI. Labeling of lactose precursors by glycerol-1, 3-C14 and glucose-2-C14. J. Biol. Chem., 237, 1034PubMedGoogle Scholar
  10. 10.
    U. Brodbeck and K. E. Ebner, (1966). Resolution of a soluble lactose synthetase into two protein components and solubilization of microsomal lactose synthetase. J. Biol. Chem., 241, 762PubMedGoogle Scholar
  11. 11.
    U. Brodbeck, W. L. Denton, N. Tanahashi and K. E. Ebner, (1967). The isolation and identification of the B-protein of lactose synthetase as α-lactalbumin. J. Biol. Chem., 242, 1391PubMedGoogle Scholar
  12. 12.
    K. Brew, T. C. Vanaman and R. L. Hill, (1968). The role of α-lactalbumin and the A protein in lactose synthetase: a unique mechanism for the control of biological reaction. Proc. Natl. Acad. Sci. USA., 59, 491PubMedCrossRefGoogle Scholar
  13. 13.
    E. J. McGuire, G. W. Jourdian, D. M. Carlson and S. Roseman, (1965). Incorporation of D-Galactose into glycoproteins. J. Biol. Chem., 240, 4112PubMedGoogle Scholar
  14. 14.
    J. F. Morrison and K. E. Ebner, (1971). Kinetic effects of α-lactalbumin with N-acetylglucosamine and glucose as galactosyl group acceptors. J. Biol. Chem., 246, 3992PubMedGoogle Scholar
  15. 15.
    A. G. Trejo, J. W. Haddock, G. J. F. Chittenden and J. Baddiley, (1971). The biosynthesis of galactofuranosyl residues in galactocarolose. Biochem. J., 122, 49PubMedGoogle Scholar
  16. 16.
    H. G. Hers, (1960). L’aldose-réductase. Biochim. Biophys. Acta, 37, 120PubMedCrossRefGoogle Scholar
  17. 17.
    S. Hayman and J. H. Kinoshita, (1965). Isolation and properties of lens aldose reductase. J. Biol. Chem., 240, 877PubMedGoogle Scholar
  18. 18.
    R. Van Heyningen, (1971). Galactose cataract: a review. Exp. Eye Res., 11, 415PubMedCrossRefGoogle Scholar
  19. 19.
    J. Markwell, G. T. Shimamoto, D. L. Bissett and R. L. Anderson, (1976). Pathway of galactitol catabolism in Klebsiella pneumoniae. Biochem. Biophys. Res. Commun., 71, 221PubMedCrossRefGoogle Scholar
  20. 20.
    J. Lengeler, (1977). Analysis of mutations affecting the dissimilation of galactitol (dulcitol) in Escherichia coli K12. Mol. Gen. Genet., 152, 83PubMedCrossRefGoogle Scholar
  21. 21.
    W. R. Bergren, W. G. Ng, G. N. Donnell and S. P. Markey, (1972). Galactonic acid in galactosemia: identification in the urine. Science, 176, 683PubMedCrossRefGoogle Scholar
  22. 22.
    R. Gitzelmann, H. J. Wells and S. Segal, (1974). Galactose metabolism in a patient with hereditary galactokinase deficiency. Eur. J. Clin. Invest., 4, 79PubMedGoogle Scholar
  23. 23.
    K. Wallenfels and G. Kurz, (1966). Methods in Enzymology, Vol. IX., p. 112. (Academic Press New York)Google Scholar
  24. 24.
    G. Avigad, D. Amaral, C. Asensio and B. L. Horecker, (1962). The D-galactose oxidase of Polyporus circinatus. J. Biol. Chem., 237, 2736PubMedGoogle Scholar
  25. 25.
    T. Inouye, M. Tannenbaum and D. Y.-Y. Hsia, (1962). Identification of galactose-6-phosphate in galactosemic erythrocytes. Nature, 193, 67CrossRefGoogle Scholar
  26. 26.
    T. Posternak and J. P. Rosselet, (1954). Action de la phosphoglucomutase du muscle sur des acides aldose-1-phosphoriques. Transformation de l’acide galactose-1-phosphorique. Helv. Chim. Acta., 37, 246CrossRefGoogle Scholar
  27. 27.
    D. L. Bissett and R. L. Anderson, (1973). Lactose and D-galactose metabolism in Staphylococcus aureus: Pathway of D-galactose 6-phosphate degradation. Biochem. Biophys. Res. Commun., 52, 641PubMedCrossRefGoogle Scholar
  28. 28.
    H. W. Kosterlitz, (1943). The structure of the galactose-1-phosphate present in the liver during galactose assimilation. Biochem. J., 37, 318PubMedGoogle Scholar
  29. 29.
    L. F. Leloir, (1951). The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch. Biochem. Biophys., 33, 186PubMedCrossRefGoogle Scholar
  30. 30.
    R. Caputto, H. S. Barra and F. A. Cumar, (1967). Carbohydrate metabolism. Biosynthesis of di-and tri-saccharides. Annu. Rev. Biochem., 36, 211PubMedCrossRefGoogle Scholar
  31. 31.
    V. Ginsburg and E. F. Neufeld, (1969). Complex heterosaccharides of animals. Annu. Rev. Biochem., 38, 371PubMedCrossRefGoogle Scholar
  32. 32.
    G. J. Albrecht, S. T. Bass, L. L. Seifert and R. G. Hansen, (1966). Crystallization and properties of uridine diphosphate glucose pyrophosphorylase from liver. J. Biol. Chem., 241, 2968PubMedGoogle Scholar
  33. 33.
    S. Levine, T. A. Gillett, E. Hageman and R. G. Hansen, (1969). Uridine diphosphate glucose pyrophosphorylase. II. Polymeric and subunit structure. J. Biol. Chem., 244, 5729PubMedGoogle Scholar
  34. 34.
    R. L. Turnquist, T. A. Gillett and R. G. Hansen, (1974). Uridine diphosphate glucose pyrophosphorylase. Crystallization and properties of the enzyme from rabbit liver and species comparisons. J. Biol. Chem., 249, 7695PubMedGoogle Scholar
  35. 35.
    H. D. Abraham and R. R. Howell, (1969). Human hepatic uridine diphosphate galactose pyrophosphorylase. J. Biol. Chem., 244, 545PubMedGoogle Scholar
  36. 36.
    C. M. Chacko, L. McCrone and H. L. Nadler, (1972). Uridine diphosphoglucose pyrophosphorylase and uridine diphosphogalactose pyrophosphorylase in human skin fibroblasts derived from normal and galac-tosemic individuals. Biochim. Biophys. Acta, 268, 113PubMedGoogle Scholar
  37. 37.
    R. Gitzelmann and B. Steinmann, (1973). Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. Helv. Paediatr. Acta, 28, 497PubMedGoogle Scholar
  38. 38.
    G. L. Nelsetuen and S. Kirkwood, (1971). The mechanism of action of the enzyme uridine diphosphoglucose 4-epimerase. J. Biol. Chem., 246, 7533Google Scholar
  39. 39.
    O. Gabriel, L. Van Linten, (1978). Biochemistry of carbohydrates. II. In D. J. Manners (ed.). International Review of Biochemistry., p. 1. (University Park Press Baltimore)Google Scholar
  40. 40.
    K. J. Isselbacher and S. M. Krane, (1961). Studies on the mechanism of the inhibition of galactose oxidation by ethanol. J. Biol. Chem., 236, 2394PubMedGoogle Scholar
  41. 41.
    H. M. Kalckar, J. H. Kinoshita and G. N. Donnell, (1973). Biology of Brain Disfunction, p. 31. (Plenum Press New York)Google Scholar
  42. 42.
    S. Segal and S. Rogers, (1971). Nucleotide inhibition of mammalian liver galactose-1-phosphate uridyltransferase. Biochim. Biophys. Acta, 250, 351PubMedGoogle Scholar
  43. 43.
    R. Gitzelmann, (1969). Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia. Pediatr. Res., 3, 279PubMedCrossRefGoogle Scholar
  44. 44.
    J. K. Knop and R. G. Hansen, (1970). Uridine diphosphate glucose pyrophosphorylase. IV. Crystallization and properties of the enzyme from human liver. J. Biol. Chem., 245, 2499PubMedGoogle Scholar
  45. 45.
    W. K. Ting and r. G. Hansen, (1968). Uridine diphosphate galactose pyrophosphorylase from calf liver. PtiProc. Soc. Exp. Biol. Med., 127, 960Google Scholar
  46. 46.
    R. L. Turnquist, M. M. Turnquist, R. C. Bachmann and R. G. Hansen, (1974). Uridine diphosphate glucose pyrophosphorylase: Differential heat inactivation and further characterization of human liver enzyme. Biochim. Biophys. Acta, 364, 59PubMedGoogle Scholar
  47. 47.
    R. Gitzelmann and R. G. Hansen, (1974). Galactose biogenesis and disposal in galactosemics. Biochim. Biophys. Acta, 372, 374Google Scholar
  48. 48.
    A. Kornberg, (1957). Pyrophosphorylases and phosphorylases in biosynthetic reactions. Adv. Enzymol, 18, 191Google Scholar
  49. 49.
    H. G. Wood, W. E. O’Brien and G. Michaels, (1977). Properties of car-boxytransphosphorylase; pyruvate, phosphate dikinase; pyrophosphate-phosphofructokinase and pyrophosphate-acetate kinase and their roles in the metabolism of inorganic pyrophosphate. Adv. Enzymol, 45, 85PubMedGoogle Scholar
  50. 50.
    R. G. G. Russel, (1976). Metabolism of inorganic pyrophosphate (PPi). Arthritis Rheum., 19, 465CrossRefGoogle Scholar
  51. 51.
    J. D. Schwenn, R. M. Lilley and D. A. Walker, (1973). Inorganic pyrophosphatase and photosynthesis by isolated chloroplasts. I. Characterization of chloroplast pyrophosphatase and its relation to the response to exogenous pyrophosphate. Biochim. Biophys. Acta, 325, 586PubMedCrossRefGoogle Scholar
  52. 52.
    G. Levine and J. A. Bassham, (1974). Inhibition of photosynthesis in isolated spinach chloroplasts by inorganic phosphate or inorganic pyrophosphatase in the presence of pyrophosphate and magnesium ions. Biochim. Biophys. Acta, 333, 136PubMedCrossRefGoogle Scholar
  53. 53.
    R. G. Hansen and R. Gitzelmann, (1975). The metabolism of lactose and galactose. In A. Jeanes and J. Hodge (eds.). Physiological Effects of Food Carbohydrates, Vol. 15, pp. 100–122. (Am. Chem. Soc. Symposium Series )Google Scholar
  54. 54.
    R. Gitzelmann, (1965). Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet, 2, 670Google Scholar
  55. 55.
    G. Fanconi, (1933). Hochgradige Galaktose-Intoleranz (Galaktose-Diabetes) bei einem Kinde mit Neurofibromatosis Recklinghausen. Jb. Kinderhellk., 138, 1Google Scholar
  56. 56.
    R. Gitzelmann, (1967). Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr. Res., 1, 14CrossRefGoogle Scholar
  57. 57.
    R. Gitzelmann and R. Illig, (1969). Inability of galactose to mobilize insulin in galactokinase-deficient individuals. Diabetologia, 5, 143PubMedCrossRefGoogle Scholar
  58. 58.
    R. Gitzelmann, H. C. Curtius and M. Muller, (1966). Galactitol excretion in the urine of a galactokinase-deficient man. Biochem. Biophys. Res. Commun., 22, 437CrossRefGoogle Scholar
  59. 59.
    W. R. Pickering and R. R. Howell, (1972). Galactokinase deficiency: clinical and biochemical findings in a new kindred. J. Pediatr., 81, 50PubMedCrossRefGoogle Scholar
  60. 60.
    O. Thalhammer, R. Gitzelmann and M. Pantlitschko, (1968). Hypergalac-tosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics, 42, 441PubMedGoogle Scholar
  61. 61.
    A. Dahlqvist, I. Gamstorp and H. Madsen, (1970). A patient with hereditary galactokinase deficiency. Acta Paediatr. Scand., 59, 669PubMedCrossRefGoogle Scholar
  62. 62.
    Dahlqvist, A. (Personal communication)Google Scholar
  63. 63.
    J. S. Mayes and R. Guthrie, (1968). Detection of heterozygotes for galactokinase deficiency in a human population. Biochem. Genet., 2, 219PubMedCrossRefGoogle Scholar
  64. 64.
    T. A. Tedesco, R. Nonow, K. Miller and W. J. Mellman, (1972). Galactokinase: evidence for a new racial polymorphism. Science, 178, 176PubMedCrossRefGoogle Scholar
  65. 65.
    T. A. Tedesco, K. L. Miller, B. E. Rawnsley, M. C. Adams, H. B. Markus, K. G. Orkwiszewski and W. J. Mellman, (1977). The Philadelphia variant of galactokinase. Am. J. Hum. Genet., 29, 240PubMedGoogle Scholar
  66. 66.
    F. Linneweh, E. Schaumloffel and M. Vetrella, (1970). Galaktokinase-Defekt bei einem Neugeborenen. Klin. Wochenschr., 48,31PubMedCrossRefGoogle Scholar
  67. 67.
    C. Vigneron, C. Marchal, C. Deifts, M. Vidailhet, M. Pierson, et N. Neimann, (1970). Deficit partiel et transitoire en galactokinase erythrocytaire chez un nouveau-ne. Arch. Fr. Pediatr., 27, 523PubMedGoogle Scholar
  68. 68.
    J. G. H. Cook, N. A. Don and T. P. Mann, (1971). Hereditary galactokinase deficiency. Arch. Dis. Child., 46, 465PubMedCrossRefGoogle Scholar
  69. 69.
    M. M. Kerr, R. W. Logan, J. S. Cant and J. H. Hutchison, (1971). Galactokinase deficiency in a newborn infant. Arch. Dis. Child., 46, 864PubMedCrossRefGoogle Scholar
  70. 70.
    J. A. Monteleone, E. Beutler, P. L. Monteleone, C. L. Utz and E. C. Casey, (1971). Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Am. J. Med., 50, 403PubMedCrossRefGoogle Scholar
  71. 71.
    N. S. Levy, A. E. Krill and E. Beutler, (1972). Galactokinase deficiency and cataracts. Am. J. Ophthalmol, 74, 41PubMedGoogle Scholar
  72. 72.
    H. Kaloud, F. C. Sitzmann, R. Mayer und F. Paltauf, (1973). Klinische und biochemische Befunde bei einem Kleinkind mit hereditarem Galaktokinase-Defekt. Clin. Paediatr., 185, 18Google Scholar
  73. 73.
    E. Beutler, F. Matsumoto, W. Kuhl, A. Krill, N. Levy, R. Sparkes and M. Degnan, (1973). Galactokinase deficiency as a cause of cataracts. N.Engl. J. Med., 288, 1203PubMedCrossRefGoogle Scholar
  74. 74.
    N. O. Olambiwonnu, R. McVie, W. G. Ng, S. D. Frasier and G. N. Donnell, (1974). Galactokinase deficiency in twins: clinical and biochemical studies. Pediatrics, 53, 314PubMedGoogle Scholar
  75. 75.
    F. Vecchio, F. Carnevale and G. Di Bitonto, (1976). Galactokinase deficiency in an Italian infant. In H. Bickel and J. Stern (eds.). Inborn Errors of Calcium and Bone Metabolism, pp. 317–324. MTP Press LancasterGoogle Scholar
  76. 76.
    N. Litman, A. I. Kanter and L. Finberg, (1975). Galactokinase deficiency presenting as pseudotumor cerebri. J. Pediatr., 86, 410PubMedCrossRefGoogle Scholar
  77. 77.
    J. A. Ritter and E. J. Cannon, (1955). Galactosemia with cataracts. N. Engl. J. Med., 252, 747PubMedCrossRefGoogle Scholar
  78. 78.
    Segal, S. (Personal communication)Google Scholar
  79. 79.
    R. Gitzelmann, (1975). Additional findings in galactokinase deficiency. J. Pediatr., 87, 1007PubMedGoogle Scholar
  80. 80.
    J. H. Kinoshita, D. Dvornik, M. Kraml and K. Gabbay, (1968). The effect of an aldose reductase inhibitor on the galactose-exposed rabbit lens. Biochim. Biophys, Acta, 158,472Google Scholar
  81. 81.
    J. H. Kinoshita, (1965). Cataracts in galactosemia. Invest. Ophthalmol., 4, 786PubMedGoogle Scholar
  82. 82.
    J. T. Prchal, M. E. Conrad and H. W. Skalka, (1978). Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet, 1, 12PubMedCrossRefGoogle Scholar
  83. 83.
    A. Von Reuss, (1908). Zuckerausscheidung im Sauglingsalter. Wien. Med. Wochenschr., 58, 800Google Scholar
  84. 84.
    V. Schwarz, L. Golberg, G. M. Komrower and A. Holzel, (1956). Some disturbances of erythrocyte metabolism in galactosaemia. Biochem. J., 62, 34PubMedGoogle Scholar
  85. 85.
    H. M. Kalckar, E. P. Anderson and K. J. Isselbacher, (1956). Galactosemia, a congenital defect in a nucleotide transferase. Biochim. Biophys. Acta, 20, 262PubMedCrossRefGoogle Scholar
  86. 86.
    G. M. Komrower (1973). Treatment of galactosaemia. In J. W. T. Seakins R. A. Saunders and C. Toothill (eds.). Treatment of Inborn Errors of Metabolism pp. 113–120. (Churchill Livingstone EdinburgGoogle Scholar
  87. 87.
    S. Segal, (1978). Disorders of galactose metabolism. In J. B. Stanbury, J. B. Wyngaarden and D. S. Fredrickson (eds.). The Metabolic Basis of Inherited Disease, pp. 160–181. (McGraw-Hill New York)Google Scholar
  88. 88.
    T. A. Tedesco, J. W. Wu, F. S. Boches and W. J. Mellman, (1975). The genetic defect in galactosemia. N. Engl. J. Med., 292, 737PubMedCrossRefGoogle Scholar
  89. 89.
    G. N. Donnell, R. Koch and W. R. Bergren, (1969). Observations on results of management of galactosemic patients. In D. Y.-Y. Hsia (ed.). Galactosemia, pp. 247–268. (Charles C. Thomas Springfield)Google Scholar
  90. 90.
    H. L. Nadler, T. Inouye and D. Y.-Y. Hsia, (1969). Classical galactosemia: a study of fifty-five cases. In D. Y.-Y. Hsia (ed.). Galactosemia, pp. 127–139. (Charles C. Thomas Springfield)Google Scholar
  91. 91.
    G. N. Donnell and W. R. Bergren, (1975). The galactosaemias. In D. N. Raine (ed.). The Treatment of Inherited Metabolic Disease, pp. 91–114. (MTP Press Lancaster)Google Scholar
  92. 92.
    G. M. Komrower and D. H. Lee, (1970). Long-term follow-up of galactosaemia. Arch. Dis. Child., 45, 367PubMedCrossRefGoogle Scholar
  93. 93.
    K. Fishler, G. N. Donnell, W. R. Bergen and R. Koch, (1972). Intellectual and personality development in children with galactosemia. Pediatrics, 50, 412PubMedGoogle Scholar
  94. 94.
    R. Gitzelmann, (1974). α-D-galactose-1-phosphate determination as galactose after hydrolysis of phosphate. In H. U. Bergmeyer and K. Gawehn (eds.).Methods of Enzymatic Analysis, pp. 1291–1295. (Weinheim Academic Press New York)Google Scholar
  95. 95.
    R. Gitzelmann, H. C. Curtius and I. Schneller, (1967). Galactitol and galactose-1-phosphate in the lens of a galactosemic infant. Exp. Eye Res., 6, 1PubMedCrossRefGoogle Scholar
  96. 96.
    H. Harris, (1976). Enzyme variants in human populations. Johns Hopkins Med. J., 138, 245PubMedGoogle Scholar
  97. 97.
    E. Beutler, (1973). Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant. Isr. J. Med. Sci., 9, 1323PubMedGoogle Scholar
  98. 98.
    A. Thomakos, E. Beutler and G. Stamatoyannopoulos, (1977). Variants of galactose-1-phosphate uridyl transferase in the Greek populations. Hum. Genet., 36, 335PubMedCrossRefGoogle Scholar
  99. 99.
    S. Bissbort and J. Kompf, (1972). Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: Humangenetik, 17, 79PubMedCrossRefGoogle Scholar
  100. 100.
    P. Kuhnl, L. Nowicki und W. Spielmann, (1974). Untersuchungen zum Polymorphismus der Galaktose-l-Phosphat-Uridyltransferase (EC: mittels Agarosegelelektrophorese. Humangenetik, 24, 227PubMedGoogle Scholar
  101. 101.
    W. Martin und G. Kienzler, (1975). Polymorphismus der menschlichen Erythrozyten-Uridyltransferase (E.C. Untersuchung an einer Stichprobe aus der Berliner Bevolkerung. Blut, 30, 59PubMedCrossRefGoogle Scholar
  102. 102.
    R. Pflugshaupt, R. Scherz and R. Butler, (1976). Polymorphism of human red cell adenosine deaminase, esterase D, glutamate pyruvate transaminase and galactose-1-phosphate-uridyltransferase in the Swiss population. Hum. Hered., 26, 161PubMedCrossRefGoogle Scholar
  103. 103.
    C. K. Mathai and E. Beutler, (1966). Electrophoretic variation of galactose-1-phosphate uridyltransferase. Science, 154, 1179PubMedCrossRefGoogle Scholar
  104. 104.
    R. Gitzelmann, J. R. Poley and A. Prader, (1967). Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme. Helv. Paediatr. Acta, 22, 252PubMedGoogle Scholar
  105. 105.
    H. L. Levy, S.J. Sepe, D. S. Walton, V. E. Shih, G. Hammersen, S. Houghton and E. Beutler, (1978). Galactose-1-phosphate uridyltransferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. J. Pediatr., 92, 390PubMedCrossRefGoogle Scholar
  106. 106.
    C. H. Wharton, H. K Berry and M. K. Bofinger, (1978). Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. Clin. Genet., 13, 171PubMedCrossRefGoogle Scholar
  107. 107.
    H. P. Schwarz, K. Zuppinger, A. Zimmerman, H. Dauwalder and R. Scherz, (1978). Doppeltheterozygotie fur Duarte-Variante und Galakto-samie — genetische Variation oder Krankheit? (Abstr.). Helv. Paediatr. Acta, 40, 14Google Scholar
  108. 108.
    A. Holzel and G. M. Komrower, (1955). A study of the genetics of galactosemia. Arch. Dis. Child., 30, 155PubMedCrossRefGoogle Scholar
  109. 109.
    G. N. Donnell, W. R. Bergren and M. Roldan, (1959). Genetic studies in galactosemia. I: The oral galactose tolerance test and the heterozygous state. Pediatrics, 24, 418PubMedGoogle Scholar
  110. 110.
    J. S. Mayes and L. R. Miller, (1973). The metabolism of galactose by galactosemic fibroblasts in vitro. Biochim. Biophys. Acta, 313, 9PubMedGoogle Scholar
  111. 111.
    R. Gitzelmann R. G. Hansen and B. Steinmann (1975). Biogenesis of galactose a possible mechanism of self-intoxication in galactosemia. In F. A. Hommes and C. J. Van den Berg (eds.). Normal and Pathological Development of Energy Metabolism pp. 25–37. Academic Press LondonGoogle Scholar
  112. 112.
    T. F. Roe, W. G. Ng, W. R. Bergren and G. N. Donnell, (1973). Urinary galactitol in galactosemic patients. Biochem. Med., 7, 266PubMedCrossRefGoogle Scholar
  113. 113.
    R. Gitzelmann and R. G. Hansen, (1974). Biogenesis of galactose: evidence in galactosemic infants. (Abstr.) itPediatr. Res., 8, 137Google Scholar
  114. 114.
    S. Rogers, P. G. Holtzapple, W. J. Mellman and S. Segal, (1970). Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans. Metabolism, 19, 701PubMedCrossRefGoogle Scholar
  115. 115.
    W. J. Mellman, T. A. Tedesco and P. Feigl, (1968). Estimation of the gene frequency of the Duarte variant of galactose-1-phosphate uridyl transferase. Ann. Hum. Genet., 32, 1CrossRefGoogle Scholar
  116. 116.
    S. Segal, A. Blair and H. Roth, (1965). The metabolism of galactose by patients with congenital galactosemia. Am. J. Med., 38, 62PubMedCrossRefGoogle Scholar
  117. 117.
    L. Baker, W. J. Mellman, T. A. Tedesco and S. Segal, (1966). Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship. J. Pediatr., 68, 551CrossRefGoogle Scholar
  118. 118.
    W. G. Ng, W. R. Bergren, M. Fields and G. N. Donnell, (1969). An improved electrophoretic procedure for galactose-1-phosphate uridyl transferase: demonstration of multiple activity bands with the Duarte variant. Biochem. Biophys. Res. Commun., 37, 354CrossRefGoogle Scholar
  119. 119.
    E. Beutler and C. K. Mathai, (1968). Genetic variation in red cell galactose-1-phosphate uridyl transferase. In Hereditary Disorders of Erythrocyte Metabolism, pp. 66–86. (Grune Stratton USAGoogle Scholar
  120. 120.
    F. Schapira and J.-C. Kaplan, (1969). Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia. Biochem. Biophys. Res. Commun. 35, 451PubMedCrossRefGoogle Scholar
  121. 121.
    G. Hammersen, S. Houghton and H. L. Levy, (1975). Rennes-like variant of galactosemia: clinical and biochemical studies. J. Pediatr., 87, 50PubMedCrossRefGoogle Scholar
  122. 122.
    C. M. Chacko, J. C. Christian and H. L. Nadler, (1971). Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia. J. Pediatr., 78, 454PubMedCrossRefGoogle Scholar
  123. 123.
    W. G. Ng, W. R. Bergren and G. N. Donnell, (1973). A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. Ann. Hum. Genet., 37, 1CrossRefGoogle Scholar
  124. 124.
    D. Matz J. Enzenauer and F. Menne 1975. Ueber einen Fall von atypischer Galaktosa ie. Humangenetik 27 30Google Scholar
  125. 125.
    K. v. Figura, A. Lang and H. Grobe, (1979). Eine neue Galakto-samievariante: Hemmung der Uridyltransferaseaktivitat durch Glucose 1-Phosphat. (In preparation).Google Scholar
  126. 126.
    R. Scherz, R. Pflugshaupt and R. Butler, (1976). A new genetic variant of galactose-1-phosphate uridyl transferase. Hum. Genet., 35, 51PubMedCrossRefGoogle Scholar
  127. 127.
    C. M. Chacko, R. S. Wappner, I. K. Brandt and N. L. Nadler, (1977). The Chicago variant of clinical galactosemia. Hum. Genet., 37, 261PubMedCrossRefGoogle Scholar
  128. 128.
    H. M. Kalckar, (1965). Galactose metabolism and cell’ sociology’. Science, 150, 305PubMedCrossRefGoogle Scholar
  129. 129.
    R. Gitzelmann, (1972). Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. Helv. Paediatr. Acta, 27, 125PubMedGoogle Scholar
  130. 130.
    K. Paigen and F. Pacholec, (1979). A new method of screening neonates forgalactosemia. J. Lab. Clin. Med. (In press).Google Scholar
  131. 131.
    R. Gitzelmann and B. Steinmann, (1973). Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. Helv. Paediatr. Acta, 28, 497PubMedGoogle Scholar
  132. 132.
    R. Gitzelmann, B. Steinmann, B. Mitchell and E. Haigis, (1976). Uridine diphosphate galactose 4’-epimerase deficiency. IV. Report of eight cases in three families. Helv. Paediatr. Acta, 31, 441Google Scholar
  133. 133.
    B. Mitchell, E. Haigis, B. Steinmann and R. Gitzelmann, (1975). Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. (Gene expression/enzyme deficiency/lymphocyte transformation). Proc. Natl. Acad. Sci. USA, 72, 5026PubMedCrossRefGoogle Scholar
  134. 134.
    R. Gitzelmann and E. Haigis, (1978). Appearance of active UDP-galactose 4’-epimerase in cells cultured from epimerase-deficient persons. J. Inker. Metab. Dis., 1,41CrossRefGoogle Scholar
  135. 135.
    N. Katunuma, K. Kito and E. Kominami, (1971). A new enzyme that specifically inactivates apoprotein of NAD-dependent dehydrogenases. Biochem. Biophys. Res. Commun., 45, 76PubMedCrossRefGoogle Scholar
  136. 136.
    W. E. Marshall and A. Omachi, (1974). Measured and calculated NAD+/NADH ratios in human erythrocytes. Biochim. Biophys. Acta, 354, 1PubMedGoogle Scholar
  137. 137.
    V. A. McKusick (1975). Mendelian Inheritance in Man 4th ed. entry No. 11170 p. 39. (Johns Hopkins University Press BaltimoreGoogle Scholar
  138. 138.
    K. J. Isselbacher, (1957). Evidence for an accessory pathway of galactose metabolism in mammalian liver. Science, 126, 652PubMedCrossRefGoogle Scholar

Copyright information

© The Society for the Study of Inborn Errors of Metabolism 1980

Authors and Affiliations

  • R. Gitzelmann
  • R. G. Hansen

There are no affiliations available

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