Mutations in the GALK1 gene disrupt the normal metabolism of galactose, leading to elevated levels of galactitol. The accumulation of galactitol primarily affects the eyes, causing osmotic stress that leads to the formation of cataracts. The toxic buildup can also contribute to other complications if galactose is not adequately restricted in the diet. In severe cases, there may be additional metabolic disruptions that can impact liver function and the central nervous system.
