Skip to main content
SpringerLink
Log in

Galactose metabolism, hereditary defects and their clinical significance

  • Chapter
Inherited Disorders of Carbohydrate Metabolism

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  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, 443

    PubMed  CAS  Google Scholar 

  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, 389

    PubMed  CAS  Google Scholar 

  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, 1027

    Article  PubMed  CAS  Google Scholar 

  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, 293

    Article  PubMed  CAS  Google Scholar 

  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, 695

    Article  PubMed  CAS  Google Scholar 

  6. R. O. Brady, (1973). Inborn errors of lipid metabolism. Adv. Enzymol, 38, 293

    PubMed  CAS  Google Scholar 

  7. R. O. Brady, (1978). Sphingolipidoses. Annu. Rev. Biochem., 47, 687

    Article  PubMed  CAS  Google Scholar 

  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, 3148

    PubMed  CAS  Google Scholar 

  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, 1034

    PubMed  CAS  Google Scholar 

  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, 762

    PubMed  CAS  Google Scholar 

  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, 1391

    PubMed  CAS  Google Scholar 

  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, 491

    Article  PubMed  CAS  Google Scholar 

  13. E. J. McGuire, G. W. Jourdian, D. M. Carlson and S. Roseman, (1965). Incorporation of D-Galactose into glycoproteins. J. Biol. Chem., 240, 4112

    PubMed  CAS  Google Scholar 

  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, 3992

    PubMed  CAS  Google Scholar 

  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, 49

    PubMed  CAS  Google Scholar 

  16. H. G. Hers, (1960). L’aldose-réductase. Biochim. Biophys. Acta, 37, 120

    Article  PubMed  CAS  Google Scholar 

  17. S. Hayman and J. H. Kinoshita, (1965). Isolation and properties of lens aldose reductase. J. Biol. Chem., 240, 877

    PubMed  CAS  Google Scholar 

  18. R. Van Heyningen, (1971). Galactose cataract: a review. Exp. Eye Res., 11, 415

    Article  PubMed  Google Scholar 

  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, 221

    Article  PubMed  CAS  Google Scholar 

  20. J. Lengeler, (1977). Analysis of mutations affecting the dissimilation of galactitol (dulcitol) in Escherichia coli K12. Mol. Gen. Genet., 152, 83

    Article  PubMed  CAS  Google Scholar 

  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, 683

    Article  PubMed  CAS  Google Scholar 

  22. R. Gitzelmann, H. J. Wells and S. Segal, (1974). Galactose metabolism in a patient with hereditary galactokinase deficiency. Eur. J. Clin. Invest., 4, 79

    PubMed  CAS  Google Scholar 

  23. K. Wallenfels and G. Kurz, (1966). Methods in Enzymology, Vol. IX., p. 112. (Academic Press New York)

    Google Scholar 

  24. G. Avigad, D. Amaral, C. Asensio and B. L. Horecker, (1962). The D-galactose oxidase of Polyporus circinatus. J. Biol. Chem., 237, 2736

    PubMed  CAS  Google Scholar 

  25. T. Inouye, M. Tannenbaum and D. Y.-Y. Hsia, (1962). Identification of galactose-6-phosphate in galactosemic erythrocytes. Nature, 193, 67

    Article  CAS  Google Scholar 

  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, 246

    Article  CAS  Google Scholar 

  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, 641

    Article  PubMed  CAS  Google Scholar 

  28. H. W. Kosterlitz, (1943). The structure of the galactose-1-phosphate present in the liver during galactose assimilation. Biochem. J., 37, 318

    PubMed  CAS  Google Scholar 

  29. L. F. Leloir, (1951). The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch. Biochem. Biophys., 33, 186

    Article  PubMed  CAS  Google Scholar 

  30. R. Caputto, H. S. Barra and F. A. Cumar, (1967). Carbohydrate metabolism. Biosynthesis of di-and tri-saccharides. Annu. Rev. Biochem., 36, 211

    Article  PubMed  CAS  Google Scholar 

  31. V. Ginsburg and E. F. Neufeld, (1969). Complex heterosaccharides of animals. Annu. Rev. Biochem., 38, 371

    Article  PubMed  CAS  Google Scholar 

  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, 2968

    PubMed  CAS  Google Scholar 

  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, 5729

    PubMed  CAS  Google Scholar 

  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, 7695

    PubMed  CAS  Google Scholar 

  35. H. D. Abraham and R. R. Howell, (1969). Human hepatic uridine diphosphate galactose pyrophosphorylase. J. Biol. Chem., 244, 545

    PubMed  CAS  Google Scholar 

  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, 113

    PubMed  CAS  Google Scholar 

  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, 497

    PubMed  CAS  Google Scholar 

  38. G. L. Nelsetuen and S. Kirkwood, (1971). The mechanism of action of the enzyme uridine diphosphoglucose 4-epimerase. J. Biol. Chem., 246, 7533

    Google Scholar 

  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. K. J. Isselbacher and S. M. Krane, (1961). Studies on the mechanism of the inhibition of galactose oxidation by ethanol. J. Biol. Chem., 236, 2394

    PubMed  CAS  Google Scholar 

  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. S. Segal and S. Rogers, (1971). Nucleotide inhibition of mammalian liver galactose-1-phosphate uridyltransferase. Biochim. Biophys. Acta, 250, 351

    PubMed  CAS  Google Scholar 

  43. R. Gitzelmann, (1969). Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia. Pediatr. Res., 3, 279

    Article  PubMed  CAS  Google Scholar 

  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, 2499

    PubMed  CAS  Google Scholar 

  45. W. K. Ting and r. G. Hansen, (1968). Uridine diphosphate galactose pyrophosphorylase from calf liver. PtiProc. Soc. Exp. Biol. Med., 127, 960

    Google Scholar 

  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, 59

    PubMed  CAS  Google Scholar 

  47. R. Gitzelmann and R. G. Hansen, (1974). Galactose biogenesis and disposal in galactosemics. Biochim. Biophys. Acta, 372, 374

    CAS  Google Scholar 

  48. A. Kornberg, (1957). Pyrophosphorylases and phosphorylases in biosynthetic reactions. Adv. Enzymol, 18, 191

    CAS  Google Scholar 

  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, 85

    PubMed  CAS  Google Scholar 

  50. R. G. G. Russel, (1976). Metabolism of inorganic pyrophosphate (PPi). Arthritis Rheum., 19, 465

    Article  Google Scholar 

  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, 586

    Article  PubMed  CAS  Google Scholar 

  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, 136

    Article  PubMed  CAS  Google Scholar 

  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. R. Gitzelmann, (1965). Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet, 2, 670

    Google Scholar 

  55. G. Fanconi, (1933). Hochgradige Galaktose-Intoleranz (Galaktose-Diabetes) bei einem Kinde mit Neurofibromatosis Recklinghausen. Jb. Kinderhellk., 138, 1

    CAS  Google Scholar 

  56. R. Gitzelmann, (1967). Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr. Res., 1, 14

    Article  CAS  Google Scholar 

  57. R. Gitzelmann and R. Illig, (1969). Inability of galactose to mobilize insulin in galactokinase-deficient individuals. Diabetologia, 5, 143

    Article  PubMed  CAS  Google Scholar 

  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, 437

    Article  CAS  Google Scholar 

  59. W. R. Pickering and R. R. Howell, (1972). Galactokinase deficiency: clinical and biochemical findings in a new kindred. J. Pediatr., 81, 50

    Article  PubMed  CAS  Google Scholar 

  60. O. Thalhammer, R. Gitzelmann and M. Pantlitschko, (1968). Hypergalac-tosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics, 42, 441

    PubMed  CAS  Google Scholar 

  61. A. Dahlqvist, I. Gamstorp and H. Madsen, (1970). A patient with hereditary galactokinase deficiency. Acta Paediatr. Scand., 59, 669

    Article  PubMed  CAS  Google Scholar 

  62. Dahlqvist, A. (Personal communication)

    Google Scholar 

  63. J. S. Mayes and R. Guthrie, (1968). Detection of heterozygotes for galactokinase deficiency in a human population. Biochem. Genet., 2, 219

    Article  PubMed  CAS  Google Scholar 

  64. T. A. Tedesco, R. Nonow, K. Miller and W. J. Mellman, (1972). Galactokinase: evidence for a new racial polymorphism. Science, 178, 176

    Article  PubMed  CAS  Google Scholar 

  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, 240

    PubMed  CAS  Google Scholar 

  66. F. Linneweh, E. Schaumloffel and M. Vetrella, (1970). Galaktokinase-Defekt bei einem Neugeborenen. Klin. Wochenschr., 48,31

    Article  PubMed  CAS  Google Scholar 

  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, 523

    PubMed  CAS  Google Scholar 

  68. J. G. H. Cook, N. A. Don and T. P. Mann, (1971). Hereditary galactokinase deficiency. Arch. Dis. Child., 46, 465

    Article  PubMed  CAS  Google Scholar 

  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, 864

    Article  PubMed  CAS  Google Scholar 

  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, 403

    Article  PubMed  CAS  Google Scholar 

  71. N. S. Levy, A. E. Krill and E. Beutler, (1972). Galactokinase deficiency and cataracts. Am. J. Ophthalmol, 74, 41

    PubMed  CAS  Google Scholar 

  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, 18

    CAS  Google Scholar 

  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, 1203

    Article  PubMed  CAS  Google Scholar 

  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, 314

    PubMed  CAS  Google Scholar 

  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 Lancaster

    Google Scholar 

  76. N. Litman, A. I. Kanter and L. Finberg, (1975). Galactokinase deficiency presenting as pseudotumor cerebri. J. Pediatr., 86, 410

    Article  PubMed  CAS  Google Scholar 

  77. J. A. Ritter and E. J. Cannon, (1955). Galactosemia with cataracts. N. Engl. J. Med., 252, 747

    Article  PubMed  CAS  Google Scholar 

  78. Segal, S. (Personal communication)

    Google Scholar 

  79. R. Gitzelmann, (1975). Additional findings in galactokinase deficiency. J. Pediatr., 87, 1007

    PubMed  CAS  Google Scholar 

  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, 158,472

    CAS  Google Scholar 

  81. J. H. Kinoshita, (1965). Cataracts in galactosemia. Invest. Ophthalmol., 4, 786

    PubMed  CAS  Google Scholar 

  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, 12

    Article  PubMed  CAS  Google Scholar 

  83. A. Von Reuss, (1908). Zuckerausscheidung im Sauglingsalter. Wien. Med. Wochenschr., 58, 800

    Google Scholar 

  84. V. Schwarz, L. Golberg, G. M. Komrower and A. Holzel, (1956). Some disturbances of erythrocyte metabolism in galactosaemia. Biochem. J., 62, 34

    PubMed  CAS  Google Scholar 

  85. H. M. Kalckar, E. P. Anderson and K. J. Isselbacher, (1956). Galactosemia, a congenital defect in a nucleotide transferase. Biochim. Biophys. Acta, 20, 262

    Article  PubMed  CAS  Google Scholar 

  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 Edinburg

    Google Scholar 

  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. T. A. Tedesco, J. W. Wu, F. S. Boches and W. J. Mellman, (1975). The genetic defect in galactosemia. N. Engl. J. Med., 292, 737

    Article  PubMed  CAS  Google Scholar 

  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. 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. 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. G. M. Komrower and D. H. Lee, (1970). Long-term follow-up of galactosaemia. Arch. Dis. Child., 45, 367

    Article  PubMed  CAS  Google Scholar 

  93. K. Fishler, G. N. Donnell, W. R. Bergen and R. Koch, (1972). Intellectual and personality development in children with galactosemia. Pediatrics, 50, 412

    PubMed  CAS  Google Scholar 

  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. 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, 1

    Article  PubMed  CAS  Google Scholar 

  96. H. Harris, (1976). Enzyme variants in human populations. Johns Hopkins Med. J., 138, 245

    PubMed  CAS  Google Scholar 

  97. E. Beutler, (1973). Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant. Isr. J. Med. Sci., 9, 1323

    PubMed  CAS  Google Scholar 

  98. A. Thomakos, E. Beutler and G. Stamatoyannopoulos, (1977). Variants of galactose-1-phosphate uridyl transferase in the Greek populations. Hum. Genet., 36, 335

    Article  PubMed  CAS  Google Scholar 

  99. S. Bissbort and J. Kompf, (1972). Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12). Humangenetik, 17, 79

    Article  PubMed  CAS  Google Scholar 

  100. P. Kuhnl, L. Nowicki und W. Spielmann, (1974). Untersuchungen zum Polymorphismus der Galaktose-l-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese. Humangenetik, 24, 227

    PubMed  CAS  Google Scholar 

  101. W. Martin und G. Kienzler, (1975). Polymorphismus der menschlichen Erythrozyten-Uridyltransferase (E.C. 2.7.7.12). Untersuchung an einer Stichprobe aus der Berliner Bevolkerung. Blut, 30, 59

    Article  PubMed  CAS  Google Scholar 

  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, 161

    Article  PubMed  CAS  Google Scholar 

  103. C. K. Mathai and E. Beutler, (1966). Electrophoretic variation of galactose-1-phosphate uridyltransferase. Science, 154, 1179

    Article  PubMed  CAS  Google Scholar 

  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, 252

    PubMed  CAS  Google Scholar 

  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, 390

    Article  PubMed  CAS  Google Scholar 

  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, 171

    Article  PubMed  CAS  Google Scholar 

  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, 14

    Google Scholar 

  108. A. Holzel and G. M. Komrower, (1955). A study of the genetics of galactosemia. Arch. Dis. Child., 30, 155

    Article  PubMed  CAS  Google Scholar 

  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, 418

    PubMed  CAS  Google Scholar 

  110. J. S. Mayes and L. R. Miller, (1973). The metabolism of galactose by galactosemic fibroblasts in vitro. Biochim. Biophys. Acta, 313, 9

    PubMed  CAS  Google Scholar 

  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 London

    Google Scholar 

  112. T. F. Roe, W. G. Ng, W. R. Bergren and G. N. Donnell, (1973). Urinary galactitol in galactosemic patients. Biochem. Med., 7, 266

    Article  PubMed  CAS  Google Scholar 

  113. R. Gitzelmann and R. G. Hansen, (1974). Biogenesis of galactose: evidence in galactosemic infants. (Abstr.) itPediatr. Res., 8, 137

    Google Scholar 

  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, 701

    Article  PubMed  CAS  Google Scholar 

  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, 1

    Article  Google Scholar 

  116. S. Segal, A. Blair and H. Roth, (1965). The metabolism of galactose by patients with congenital galactosemia. Am. J. Med., 38, 62

    Article  PubMed  CAS  Google Scholar 

  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, 551

    Article  Google Scholar 

  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, 354

    Article  CAS  Google Scholar 

  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 USA

    Google Scholar 

  120. F. Schapira and J.-C. Kaplan, (1969). Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia. Biochem. Biophys. Res. Commun. 35, 451

    Article  PubMed  CAS  Google Scholar 

  121. G. Hammersen, S. Houghton and H. L. Levy, (1975). Rennes-like variant of galactosemia: clinical and biochemical studies. J. Pediatr., 87, 50

    Article  PubMed  CAS  Google Scholar 

  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, 454

    Article  PubMed  CAS  Google Scholar 

  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, 1

    Article  Google Scholar 

  124. D. Matz J. Enzenauer and F. Menne 1975. Ueber einen Fall von atypischer Galaktosa ie. Humangenetik 27 30

    Google Scholar 

  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. R. Scherz, R. Pflugshaupt and R. Butler, (1976). A new genetic variant of galactose-1-phosphate uridyl transferase. Hum. Genet., 35, 51

    Article  PubMed  CAS  Google Scholar 

  127. C. M. Chacko, R. S. Wappner, I. K. Brandt and N. L. Nadler, (1977). The Chicago variant of clinical galactosemia. Hum. Genet., 37, 261

    Article  PubMed  CAS  Google Scholar 

  128. H. M. Kalckar, (1965). Galactose metabolism and cell’ sociology’. Science, 150, 305

    Article  PubMed  CAS  Google Scholar 

  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, 125

    PubMed  CAS  Google Scholar 

  130. K. Paigen and F. Pacholec, (1979). A new method of screening neonates forgalactosemia. J. Lab. Clin. Med. (In press).

    Google Scholar 

  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, 497

    PubMed  CAS  Google Scholar 

  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, 441

    Google Scholar 

  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, 5026

    Article  PubMed  CAS  Google Scholar 

  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., 1,41

    Article  CAS  Google Scholar 

  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, 76

    Article  PubMed  CAS  Google Scholar 

  136. W. E. Marshall and A. Omachi, (1974). Measured and calculated NAD+/NADH ratios in human erythrocytes. Biochim. Biophys. Acta, 354, 1

    PubMed  CAS  Google Scholar 

  137. V. A. McKusick (1975). Mendelian Inheritance in Man 4th ed. entry No. 11170 p. 39. (Johns Hopkins University Press Baltimore

    Google Scholar 

  138. K. J. Isselbacher, (1957). Evidence for an accessory pathway of galactose metabolism in mammalian liver. Science, 126, 652

    Article  PubMed  CAS  Google Scholar 

Download references

Authors
  1. R. Gitzelmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. G. Hansen
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Bristol Royal Hospital for Sick Children, Bristol, UK

    D. Burman

  2. Department of Clinical Chemistry, Southmead Hospital, Bristol, UK

    J. B. Holton

  3. Clinical Chemistry Department, Bristol Maternity Hospital, Bristol, UK

    C. A. Pennock

Rights and permissions

Reprints and permissions

Copyright information

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

About this chapter

Cite this chapter

Gitzelmann, R., Hansen, R.G. (1980). Galactose metabolism, hereditary defects and their clinical significance. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_4

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-9215-3_4

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-9217-7

  • Online ISBN: 978-94-009-9215-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation