| 释义 |
EncyclopediaSeegalactokinasegalactokinase deficiency
galactokinase [gah-lak″to-ki´nās] 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.ga·lac·to·ki·nase de·fi·cien·cy [MIM*230200] 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. |