glycine N-methyltransferase deficiency

Term ID

DOID:0111037

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. (2)

References

• GARD:10764
• ICD10CM:E72.1
• OMIM:606664
• ORDO:289891

Ontology

Human Disease   ( DOID:0111037 )