In the realm of toxicology, galactokinase is significant because its deficiency or dysfunction can lead to galactosemia, a genetic disorder characterized by elevated levels of galactose in the blood. This condition arises from mutations in the GALK1 gene, resulting in reduced or absent enzyme activity. The accumulation of galactose and its metabolites can lead to various toxic effects, such as liver damage, cataracts, and neurological impairments. Understanding these effects is crucial for toxicologists to develop strategies for managing and treating affected individuals.
