Causes: Classic galactosemia:
Deficient UDPglucose-hexose-1-phosphate eridylyltransferase genes.
As with all medical conditions, there may be many causal factors. Further relevant information on causes of Classic galactosemia may be found in:
16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Classic galactosemia.
Both forms of galactosemia are inherited as autosomal recessive defects and occur in about 1 in 60,000 births in the United States. Up to 1.25% of the population is heterozygous for the classic galactosemia gene. Classic galactosemia results from a defect in the enzyme galactose-1-phosphate uridyl transferase. (See Metabolic pathway in galactosemia.) Galactokinase-deficiency galactosemia, the rarer form of this disorder, stems from a deficiency of the enzyme galactokinase. In both forms of galactosemia, the inability to normally metabolize the sugar galactose (which is mainly formed by digestion of the disaccharide lactose that’s present in milk) causes galactose accumulation.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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