Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:urea_cycle_disorder |
| gptkbp:affects |
liver
|
| gptkbp:alternativeName |
citrullinemia type I, adult form
|
| gptkbp:causedBy |
mutation in ASS1 gene
|
| gptkbp:firstDescribed |
late 20th century
|
| gptkbp:hasBiochemicalFeature |
hyperammonemia
elevated citrulline |
| gptkbp:hasOrphanetID |
gptkb:ORPHA:58
|
| https://www.w3.org/2000/01/rdf-schema#label |
adult-onset citrullinemia
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
215700
|
| gptkbp:symptom |
confusion
vomiting coma seizures lethargy |
| gptkbp:treatment |
liver transplantation
low-protein diet arginine supplementation |
| gptkbp:bfsParent |
gptkb:Citrullinemia_type_II
|
| gptkbp:bfsLayer |
7
|