Conditions / Genetic
galactose epimerase deficiency
info · Genetic
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
Signs and symptoms
- Delayed speech and language development
- Global developmental delay
- Delayed gross motor development
- Hypergalactosemia
- Jaundice
- Aminoaciduria
- Vomiting
- Hypotonia
- Hepatomegaly
- Generalized hypotonia
Medications that may treat it
Also known as: GALE deficiency; GALE-D; UDP-galactose-4-epimerase deficiency; epimerase deficiency galactosemia; galactosemia III