galactosemia 4

info · Genetic

A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.

Signs and symptoms

Hypergalactosemia
Cataract
Prolonged neonatal jaundice
Global developmental delay
Hepatomegaly

Also known as: GALM deficiency; Galactose mutarotase deficiency; Galactosemia type 4