GALK2 is important in the first step of the galactose metabolism pathway. GALK1, which belongs to the GHMP kinase family of proteins, is a crucial enzyme for galactose metabolism, specifically converting ?d-galactose to galactose 1-phosphate. Defects in the gene encoding GALK1 can cause galactosemia II, an autosomal recessive disorder characterized by congenital cataracts during infancy, often within the first two weeks of life. In the adult population, galactosemia II can cause presenile cataracts that are secondary to accumulation of galactitol in the lens of the eye. A second gene, GALK2, encodes an enzyme with greater activity against GalNAc than galactose. GALK2 has been implicated in the salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates.
