| Metadata | |
|---|---|
| ID | DOID:0112258 |
| Name | N-acetylglutamate synthase deficiency |
| Definition | A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/12594532/, https://pubmed.ncbi.nlm.nih.gov/3139931/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hyperammonemia due to N-acetylglutamate synthase deficiency [EXACT] N-acetyl glutamate synthetase deficiency [EXACT] N-acetylglutamate synthetase deficiency [EXACT] NAG synthetase deficiency [EXACT] NAGS deficiency [EXACT] |
| Parent Relationships |
is_a urea cycle disorder |