Epimerase deficiency

Overview

Galactose epimerase deficiency (medical condition): A condition which is characterised by a mutation in the UDP-galactose-4-epimerase gene.

Symptoms

Some of the symptoms of Galactose epimerase deficiency incude:

• Developmental delay
• Motor retardation
• Language retardation
• Learning difficulties
• Concentration difficulties

Causes

Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme.

Galactose epimerase deficiency is inherited in an autosomal recessive manner.

Diagnosis

Inherited deficiencies of galactose epimerase are detected by the finding of elevated galactose sugars in newborn screening programs designed to detect classic galactosemia but with normal levels of galactose-1-phosphate uridylyltransferase. Most of the mild cases have deficiency in red cells and uncultured white blood cells with presence of the enzyme in liver and cultured skin fibroblasts