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A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
ORPHA:79237Classification level: Disorder
Prevalence of this form of galactosemia is not known but is estimated to be less than 1/ 100,000.
Patients with galactokinase deficiency generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy.
Galactokinase deficiency is caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme.
The disorder is inherited in an autosomal recessive manner.
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.