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Galactokinase deficiency
Disease definition
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:79237
Classification level: DisorderSummary
Epidemiology
Prevalence of this form of galactosemia is not known but is estimated to be less than 1/ 100,000.
Clinical description
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.
Etiology
Galactokinase deficiency is caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme.
Genetic counseling
The disorder is inherited in an autosomal recessive manner.
Prognosis
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2011, pdf)
- Polski (2011, pdf)
Additional information