See Also: galactokinase deficiency(medicine)
galactokinase deficiency galactosaemia(medicine)
galactokinase(medicine)
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galactokinase deficiency (medicine)


galactokinase deficiency


An inborn error of metabolism due to congenital deficiency of galactokinase, resulting in increased blood galactose concentration (galactosaemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance. Galactose epimerase deficiency and galactose-1-phosphate uridyl transferase deficiency produce much the same clinical picture.