galactokinase deficiency

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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.

ga·lac·to·ki·nase de·fi·cien·cy

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.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
These data have to be compared with the clinical observation, before neonatal screening, in our IMD clinic where, during approximately 25 years, there had only been 2 cases apparently with the classic form of galactosemia, in comparison to 11 cases of galactokinase deficiency (Casco et al.
Galactokinase deficiency in eleven patients from eight Costa Rican families: Clinical and biochemical features (Poster).
Physicians do not routinely screen for galactokinase deficiency, and in any case they would interpret the levels seen in the "low" group as normal by current standards.
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Mol Genet Metab 2007;91: 234-8.