galactokinase deficiency

(redirected from GALK 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.

galactokinase deficiency

an autosomal-recessive inherited disorder of carbohydrate metabolism in which the enzyme galactokinase is deficient or absent. As a result, dietary galactose is not metabolized, galactose accumulates in the blood, and cataracts may develop rapidly. Food containing galactose, such as milk and certain milk products, must be eliminated from the diet. Compare lactase deficiency.

galactokinase

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
References in periodicals archive ?
100 mmol/L ([greater than or equal to] 20 mg/dL), we were able to segregate these 186 cases into those with possible GALK deficiency (Gal-1-P <25%) and those with a possible GALE deficiency (Gal-1-P [greater than or equal to] 25%).
665 mmol/L (30 mg/dL) was a reasonably conservative value for detecting clinically important GALE or GALK deficiency.
665 mmol/L (>30 mg/dL), which is consistent with possible GALK deficiency.
GALK deficiency leads to failure to generate the cytotoxic galactose 1-phosphate and therefore does not have the potentially fatal hepatic and renal manifestations.