Human genes for glycine N-methyltransferase deficiency
Glycine N-methyltransferase deficiency [DOID:0111037]
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.
Synonyms: glycine N-methyltransferase deficiency, DOID:0111037, glycine Nmethyltransferase deficiency, glycine N-methyltransferase deficiencies, GNMT deficiency ...