Galactokinase deficiency is a rare inherited metabolic disorder that affects the body's ability to process the sugar galactose. It is one of the disorders classified under galactosemia. The deficiency is due to mutations in the GALK1 gene, which encodes the enzyme galactokinase. This enzyme is crucial for the phosphorylation of galactose to galactose-1-phosphate, a key step in the metabolic pathway of galactose.
