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Patients with GALT and galactokinase deficiency are followed up with measurements of erythrocyte galactose-1-phosphate levels and urinary galactitol levels (23).
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose1-phosphate uridylyltransferase and galactokinase deficiencies.
Convergent evolution of similar enzymatic function on different protein folds: The hexokinase, ribokinase, and galactokinase families of sugar kinases.
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.
In both galactokinase and epimerase deficiency, children are generally asymptomatic and experience few or no ill effects from lack of the particular enzyme.
Jacques has now compared levels of this enzyme, called galactokinase, with dairy food consumption in 106 persons aged 40 to 70 - 73 of them with cataracts.
Gal-1-P is formed in the Leloir pathwayvia galactokinase and cannot be metabolized further, owing to diminished GALT activity.
Galactokinase (GALK) converts galactose to galactose 1-phosphate.