Defective GALK1 causes GALCT2

Stable Identifier
R-HSA-5609976
Type
Pathway
Species
Homo sapiens
Synonyms
Defective GALK1 can cause Galactosemia II (GALCT2)
ReviewStatus
5/5
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Defective GALK1 causes GALCT2
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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

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

J. Inherit. Metab. Dis. 2002
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
galactokinase deficiency DOID:14695 Galactosemia II
Authored
Jassal, B  (2014-07-18)
Reviewed
Timson, DJ  (2015-02-25)
Created
Jassal, B  (2014-07-18)
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