Galactosemia.
- Author:
Song Hyun YANG
1
Author Information
- Publication Type:Review
- Keywords: Galactosemia; Galactokinase; Galactose-1-phosphate uridyltransferase and uridine diphosphate-galactose 4-epimerase
- MeSH: Cataract; Galactokinase; Galactose; Galactosemias*; Hepatomegaly; Intellectual Disability; Metabolism; Uridine; UTP-Hexose-1-Phosphate Uridylyltransferase
- From:Hanyang Medical Reviews 2005;25(3):37-41
- CountryRepublic of Korea
- Language:Korean
- Abstract: Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT) and uridine diphosphate-galactose 4-epimerase (GALE). GALT deficiency is the most common and shows the most severe clinical manifestation, including hepatomegaly, cataracts, and mental retardation. The main symptom of GALT deficiency is juvenile cataracts. GALE deficiency has two different forms; benign and severe forms. The benign form has no clinical significance, however, the severe form shows the same clinical manifestations as those of GALT deficiency.
