Term Name: galactosemia 4
Synonyms: Galactose mutarotase deficiency, Galactosemia type 4, GALM deficiency
Definition: 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.
Ontology: Human Disease [DOID:0060969]   ( DOID:0060969 )

Relationships
is a type of: galactosemia