Term Name: glycine N-methyltransferase deficiency
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 )

Relationships
is a type of: hypermethioninemia
disjoint_from: hypermethioninemia due to adenosine kinase deficiency