Abstract
GALACTOSÆMIA is a hereditary disorder of carbohydrate metabolism characterized by vomiting, diarrhœa, jaundice, poor weight gain and malnutrition during early infancy. Mental retardation, cataracts and cirrhosis of the liver are common complications. The diagnosis can be made by a markedly elevated galactose tolerance test, and identification of galactose in the urine. In 1956, Schwarz, Goldberg, Komrower and Holzel1 showed that galactose-1-phosphate accumulates in the erythrocytes of galactosæmic children if they receive galactose or milk. This indicated that galactokinase must be present in such individuals. In the same year, Isselbacher, Anderson, Kurahashi and Kalckar2 demonstrated a deficiency of galactose-1-phosphate-uridyl transferase in the erythrocytes of these children. This indicated that the site of the metabolic block in this disease was at the step of: Galactose-1-PO4 + UDP glucose ⇌ UDP galactose + glucose-1-PO4
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References
Schwarz, V., Goldberg, L., Komrower, G. M., and Holzel, A., Bio. chem. J., 62, 34 (1956).
Isselbacher, K. J., Anderson, E. P., Kurahashi, K., and Kalckar, H. M., Science, 123, 635 (1956).
Hsia, D. Y.-Y., Amer. J. Human Genetics, 9, 98 (1957).
Holzel, A., and Komrower, G. M., Arch. Dis. Ch., 30, 155 (1955).
Anderson, E. P., Kalckar, H. M., Kurahashi, K., and Isselbacher, K. J., J. Lab. and Clin. Med., 50, 469 (1957), as described in “The Determination of Congenital Galactosemia”, Tentative Technical Bulletin, No. 600 (Sigma Chemical Co., St. Louis 18, Missouri).
Pauling, L., “Harvey Lectures”, 49, 216 (1953–54).
Hsia, D. Y.-Y., Driscoll, K. W., Troll, W., and Knox, W. E., Nature, 178, 1239 (1956).
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YI-YUNG HSIA, D., HUANG, I. & DRISCOLL, S. The Heterozygous Carrier in Galactosæmia. Nature 182, 1389–1390 (1958). https://doi.org/10.1038/1821389a0
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DOI: https://doi.org/10.1038/1821389a0
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