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Metadata
ID DOID:0111037
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/1159664, https://www.ncbi.nlm.nih.gov/pubmed/11810299
Xrefs

GARD:10764

ICD10CM:E72.1

OMIM:606664

ORDO:289891

Subsets

DO_rare_slim

Synonyms

GNMT deficiency [EXACT]

hypermethioninemia due to glycine N-methyltransferase deficiency [EXACT]

hypermethioninemia due to GNMT deficiency [EXACT]

Parent Relationships

is_a hypermethioninemia

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