Galactokinase deficiency
| Galactokinase deficiency | |
 | |
|---|---|
| Galactitol | |
| ICD-10 | E74.2 |
| ICD-9 | 271.1 |
| OMIM | 230200 |
| DiseasesDB | 29829 |
| eMedicine | ped/815 |
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Overview
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]
Causes
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.
Treatment
Galactokinase deficiency is treated with a diet low in galactose.[2]