Galactokinase, Blood

Use

This test is useful for the diagnosis of galactokinase deficiency, a very rare autosomal recessive disorder affecting the first step of galactose metabolism. It helps evaluate children with unexplained bilateral congenital or juvenile onset cataracts, which is a major clinical manifestation of this deficiency. The disorder has a higher frequency in the Romani population, and a prevalence estimated to be between 1 in 50,000 to 1 in 100,000 live births. Early detection and treatment with a galactose-restricted diet may prevent or reverse cataract formation.