Galactosemia

Galactosemia is a toxic clinical metabolic syndrome with an increase in blood galactose. Congenital defects in any of the three related enzymes in galactose metabolism can cause galactosemia: ① galactose-1-phosphate urylyltransferase (Gal-1-PUT) deficiency: this is a classic Galactosemia is more common; ② galactokinase deficiency: rare; ③ urinary-glycoside diphosphate galactose-4-epi isomerase (UDP-Gal-4-E) deficiency: rare. Galactosemia is an autosomal recessive congenital metabolic disease. For heterozygotes, the three related enzyme activities of the above-mentioned galactose metabolism are about 1/2 of those of normal people, while the enzyme activity of homozygotes is significantly reduced. . The loci controlling these three enzymes have now been clarified. Uridyltransferase is on the short arm of chromosome 9, galactose kinase is on the long arm of chromosome 17, and galactose-epi isomerase is on chromosome 1. .

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