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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GALK1D
Location 17q24
Name galactosemia, type 2
Other name(s) galactokinase deficiency
Corresponding gene GALK1
Main clinical features
  • cataract formation in children not maintened on a lactose-free diet
  • neonatal jaundice, juvenile cataract occuring in the first weeks of life, due to accumulation of galactitol in lens, hyperbilirubinemia, including any age related cataract
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    eye
    Type disease
    Gene product
    Name galactokinase 1 (GALK1),
    Remark(s)