Defective GALK1 can cause Galactosemia II (GALCT2)

Stable Identifier
R-HSA-5609976
Type
Pathway
Species
Homo sapiens
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Cytosolic galactokinase (GALK1) catalyses the first committed step in the Leloir pathway of galactose metabolism. GALK1 catalyses the phosphorylation of D-galactose (Gal) to form D-galactose 1-phosphate (Gal1P). Defects in GALK1 can cause type II galactosemia (GALCT2; MIM:230200), an autosomal recessive deficiency characterised by congenital cataracts during infancy and presenile cataracts in the adult population. Galactitol accumulation in the lens is the cause of these cataracts (Bosch et al. 2002).

Literature References
PubMed ID Title Journal Year
12705493 Clinical features of galactokinase deficiency: a review of the literature

Bosch, AM, Bakker, HD, van Gennip, AH, van Kempen, JV, Wanders, RJ, Wijburg, FA

J. Inherit. Metab. Dis. 2002
Participants
Participant Of
Disease
Name Identifier Synonyms
galactokinase deficiency 14695 Galactosemia II
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