Carbamoyl phosphate synthetase I deficiency
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
metabolic disorder |
| gptkbp:affects |
gptkb:urea_cycle
|
| gptkbp:cause |
hyperammonemia
|
| gptkbp:causedBy |
mutation in CPS1 gene
|
| gptkbp:diagnosedBy |
genetic testing
plasma ammonia measurement |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Carbamoyl phosphate synthetase I deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
237300
|
| gptkbp:onset |
neonatal period
|
| gptkbp:symptom |
vomiting
coma seizures lethargy |
| gptkbp:treatment |
liver transplantation
low-protein diet ammonia scavenging drugs |
| gptkbp:bfsParent |
gptkb:CPS1
gptkb:CPS-1 |
| gptkbp:bfsLayer |
6
|