Galactokinase deficiency

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Galactokinase deficiency is marked by an accumulation of Galactose and Galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate.

This is a congenital disease, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.

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