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Diagnosis of galactokinase deficiency, the second most common cause of galactosemia
Galactokinase (GALK) deficiency is a milder form of galactosemia that results in cataracts, which are preventable with a lactose-restricted diet.
Deficient GALK enzyme activity in erythrocytes is diagnostic for galactokinase deficiency.
In GALK deficiency, erythrocyte galactose-1-phosphate levels are normal, whereas plasma galactose levels are elevated.
The results of testing performed in erythrocytes are invalid following a transfusion, including analysis of enzymes, biochemical phenotyping, or galactose-1-phosphate.
See Galactosemia Testing Algorithm in Special Instructions.
Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)