Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
genetic disorder |
| gptkbp:biochemicalFinding |
elevated citrulline in blood
|
| gptkbp:complication |
brain damage
death if untreated |
| gptkbp:diagnosedBy |
genetic testing
plasma amino acid analysis |
| gptkbp:firstDescribed |
1962
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
citrullinemia type I
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D003557
|
| gptkbp:mutationAssociatedWith |
ASS1 gene
|
| gptkbp:namedAfter |
citrulline
|
| gptkbp:OMIM |
215700
|
| gptkbp:onset |
neonatal
late-onset possible |
| gptkbp:symptom |
vomiting
coma seizures lethargy hyperammonemia |
| gptkbp:treatment |
liver transplant
low-protein diet ammonia scavenging drugs arginine supplementation |
| gptkbp:bfsParent |
gptkb:ASS1
gptkb:argininosuccinate_synthetase |
| gptkbp:bfsLayer |
6
|