Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:affects |
gptkb:urea_cycle
brain liver |
| gptkbp:cause |
hyperammonemia
|
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:diagnosedBy |
genetic testing
blood ammonia test |
| gptkbp:firstDescribed |
1932
|
| https://www.w3.org/2000/01/rdf-schema#label |
urea cycle disorder
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:subspecies |
gptkb:N-acetylglutamate_synthase_deficiency
carbamoyl phosphate synthetase I deficiency ornithine transcarbamylase deficiency arginase deficiency argininosuccinate lyase deficiency argininosuccinate synthetase deficiency |
| gptkbp:symptom |
vomiting
seizures lethargy developmental delay |
| gptkbp:treatment |
liver transplant
low-protein diet ammonia scavenging drugs |
| gptkbp:bfsParent |
gptkb:Citrullinemia_type_II
gptkb:Carbamoyl_phosphate_synthetase_I_deficiency gptkb:citrullinemia_type_I |
| gptkbp:bfsLayer |
7
|