| 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 | |
| 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 |