Galactokinase deficiency

Galactokinase deficiency

Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

Causes

This is an autosomal recessive disorder, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is the formation of cataracts, due to production of galactitol in the lens of the eye. Cataracts can present as a failure to develop a social smile and failure to visually track moving objects.

See also

References

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