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).
van Gennip, AH,
van Kempen, JV,