Galactose Epimerase Deficiency

A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.

Epidemiology

Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known.

Clinical description

The disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose-containing formula, patients may develop hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening.

Etiology

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

Genetic counseling

Galactose epimerase deficiency is inherited in an autosomal recessive manner.

Prognosis

Occurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet.