galactokinase


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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

(gă-lak'tō-kī'nās),
An enzyme (a phosphotransferase) that, in the presence of ATP, catalyzes the phosphorylation of d-galactose to d-galactose-1-phosphate, the first step in the metabolism of d-galactose; galactokinase is deficient in one form of galactosemia.

ga·lac·to·ki·nase

(gă-lak'tō-kī'nās)
An enzyme (phosphotransferase) that, in the presence of adenosine triphosphate, catalyzes the phosphorylation of d-galactose to d-galactose-l-phosphate, the first step in the metabolism of d-galactose; galactokinase is deficient in one form of galactosemia.
References in periodicals archive ?
[4] Nonstandard abbreviations: GALK, galactokinase; GALT, galactose-1-phosphate uridylyltransferase; GALE, uridinediphosphate galactose4'-epimerase; UDPGal, uridine diphosphate galactose; UDPGlc, uridine diphosphate glucose; EBV, Epstein-Barr virus; LC-MS/MS, liquid chromatography-tandem mass spectrometry; IRB, Institutional Review Board; Hb, hemoglobin.
2000 Novel mutations in 13 probands with galactokinase deficiency.
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.
[2] Nonstandard abbreviations: GALT, galactose-1-phosphate uridyltransferase; GALK, galactokinase; GALE, UDP-galactose 4-epimerase; UPLC-MS/MS, ultraperformance liquid chromatography-tandem mass spectrometry.
Galactokinase: structure, function and role in type II galactosemia.
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
The assay of galactokinase and galactose-1-phosphate uridyltransferase activity in human erythrocytes: a presumed test for heterozygous carriers of the galactosemic defect.
[4] Nonstandard abbreviations: NB, newborn; GALT, galactose-1-phosphate uridyltransferase; Gal, galactose; GALK, galactokinase; GALE, galactose-4-epimerase; D/G galactosemia, Duarte/classic galactosemia; Gal-1-P, galactose 1-phosphate; PA DOH, Pennsylvania Department of Health.
In addition to classic galactosemia, the method is expected to be able to detect galactose-4epimerase deficiency, in which gal-1-P also accumulates, but not galactokinase deficiency, where the accumulated marker is galactose.
Galactose is metabolized by hepatic galactokinase enzymes rather than by the cytochrome P450 system [77].