glycine N-methyltransferase deficiency (DOID:0111037)
Alliance: disease page
Synonyms: GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; hypermethioninemia due to GNMT deficiency
Alt IDs: OMIM:606664, ICD10CM:E72.1, ORDO:289891
Definition: A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.