galactokinase deficiency  
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Search Result galactokinase deficiency

Definition of galactokinase deficiency

galactokinase deficiency

an inborn error of metabolism due to congenital deficiency of galactokinase (GALK), resulting in increased blood galactose concentration (galactosemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance, caused by mutation in the GALK gene on 17q. Galactose epimerase deficiency [MIM*230350] and galactose-1-phosphate uridyl transferase deficiency [MIM*230400] produce much the same clinical picture.


Typical mistypes for galactokinase deficiency
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