[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].