galactokinase deficiency(redirected from Galactosemia type 2)
an enzyme that catalyzes the first step in the metabolism of galactose, the transfer of a phosphate group from ATP to galactose, producing galactose-1-phosphate.
galactokinase deficiency a rare type of galactosemia transmitted as an autosomal recessive trait, caused by a deficiency of galactokinase. The only clinical manifestation is the development of cataracts during the first year of life, which can be prevented by a low-galactose diet.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
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