What are the Symptoms of Galactokinase Deficiency?
Individuals with galactokinase deficiency primarily develop cataracts due to the accumulation of galactitol, a byproduct of galactose. This condition usually presents in infancy or early childhood. Other symptoms may include pseudotumor cerebri (increased intracranial pressure) and, in rare cases, developmental delays or intellectual disabilities. The severity of symptoms can vary, and early diagnosis is essential for effective management.
