galactokinase


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galactokinase

[gə¦lak·tə′kī‚nās]
(biochemistry)
An enzyme which reactsD-galactose with adenosinetriphosphate to giveD-galactose-1-phosphate and adenosine diphosphate.
References in periodicals archive ?
A study of galactokinase and glucose 4-epimerase from normal and galactosemic skin fibroblasts.
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers
Galactokinase deficiency in eleven patients from eight Costa Rican families: Clinical and biochemical features (Poster).
Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica
In both galactokinase and epimerase deficiency, children are generally asymptomatic and experience few or no ill effects from lack of the particular enzyme.
Galactosemia in infancy: diagnosis, management, and prognosis
All but two study participants--both cataract sufferers--had galactokinase levels considered normal.
... And the risk of developing cataracts
Perhaps the absence of a correlation reflects differing enzyme activities, such as those of aldose reductase, galactokinase, and/or galactose dehydrogenase.
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate
Clinical features of galactokinase deficiency: a review of the literature.
Galactosemia diagnosis gets an upgrade
In the GALK assay, radiolabeled [[sup.14]C]-galactose catalysis to [[sup.14]C]-galactose-1-phosphate by endogenous galactokinase is monitored and quantified by using densitometry after chromatographic separation (9).
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry
Galactokinase (EC2.7.1.6), galactose-1-phosphateuridyltransferase (GALT,3 EC 2.7.7.12), and uridine diphosphate galactose 4'-epimerase (EC 5.1.3.2) are the 3 Leloir pathway enzymes responsible for the metabolism of galactose in man.
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography--tandem mass spectrometry
Increases in blood galactose (Gal) are also observed in other conditions, however: in the relatively rare galactokinase (GALK) deficiency, which can have serious sequelae; in partial GALT deficiency, which has no clinical consequences; and in UDP-galactose-4-epimerase (GALE) deficiency, which has 1 common benign form and 1 extremely rare untreatable form with severe clinical outcomes (2, 3).
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach
The Paigen and Beutler assays in combination are used by many screening laboratories (2) and can detect deficiencies in GALT, galactokinase, and galactose epimerase; however, these methods have relatively high false-positive rates (3).
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study
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