Term Name: | glycine N-methyltransferase deficiency |
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Synonyms: | GNMT deficiency, hypermethioninemia due to glycine N-methyltransferase deficiency, hypermethioninemia due to GNMT deficiency |
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. |
Ontology: | Human Disease [DOID:0111037] ( DOID:0111037 ) |