What are the clinical implications of GALK1 mutations?
The most prominent clinical implication of GALK1 mutations is the development of cataracts at an early age. In newborns and infants, the early detection of cataracts can be a sign prompting further investigation into potential genetic disorders like galactokinase deficiency. Early diagnosis and intervention, primarily through dietary management, can prevent further complications and allow individuals with GALK1 mutations to lead healthy lives.
