Galactokinase deficiency
From Wikipedia, the free encyclopedia
ICD9 = | ICDO = | OMIM = 230200 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 815 | MeshID = |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 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.
Next Page
This article is based on an article from Wikipedia, the free encyclopedia and is available under the terms of GNU Free Documentation License.
In the Wikipedia there is a list with all authors of this article available.