Hanyang Med Rev.  2005 Aug;25(3):37-41.

Galactosemia

• Yang SH

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.

Keyword

Galactosemia; Galactokinase; Galactose-1-phosphate uridyltransferase and uridine diphosphate-galactose 4-epimerase

MeSH Terms

Cataract
Galactokinase
Galactose
Galactosemias*
Hepatomegaly
Intellectual Disability
Metabolism
Uridine
UTP-Hexose-1-Phosphate Uridylyltransferase
Galactokinase
Galactose
UTP-Hexose-1-Phosphate Uridylyltransferase
Uridine