N-acetylglutamate synthase deficiency
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
metabolic disorder |
| gptkbp:affects |
gptkb:urea_cycle
|
| gptkbp:cause |
hyperammonemia
|
| gptkbp:causedBy |
mutation in NAGS gene
|
| gptkbp:diagnosedBy |
genetic testing
plasma ammonia measurement |
| gptkbp:firstDescribed |
1981
|
| https://www.w3.org/2000/01/rdf-schema#label |
N-acetylglutamate synthase deficiency
|
| gptkbp:ICD-10_code |
E72.4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
237310
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
vomiting
coma seizures lethargy |
| gptkbp:treatment |
carbamylglutamate
|
| gptkbp:bfsParent |
gptkb:urea_cycle_disorders
|
| gptkbp:bfsLayer |
7
|