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glycine N-methyltransferase deficiency
Summary
- Synonym
-
- GNMT deficiency
- hypermethioninemia due to GNMT deficiency
- hypermethioninemia due to glycine N-methyltransferase 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.
- Super Class
- hypermethioninemia
External Links
- Disease Ontology
- DOID:0111037
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
