Galactokinase deficiency

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

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.[1]

This is an autosomal recessive disorder,[2] 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.[3] Cataracts can present as a failure to develop a social smile and failure to visually track moving objects.

[tubepress mode='tag', tagValue='Galactokinase deficiency']