Human Erythrocyte Galactokinase: A Population Survey

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Abstract
Erythrocyte galactokinase activity was measured in a random sample of 620 Italian individuals to estimate the frequency of the gene responsible for the form of galactosemia due to galactokinase deficiency. 3 individuals had an activity about one-half the normal value. On the basis of biochemical studies 2 subjects were considered to be heterozygotes for galactokinase deficiency and one to have a new variant with low activity. Family studies of the 3 individuals further substantiated this conclusion. The calculated galactokinase heterozygote frequency was 1/310. Changes in the activity of the enzyme during the first 3 years of life was also investigated.

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