Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:affects |
gptkb:urea_cycle
|
| gptkbp:associatedWith |
elevated blood glutamine
low blood urea |
| gptkbp:can_present_in |
childhood
adulthood neonatal period |
| gptkbp:cause |
coma
hyperammonemia death if untreated |
| gptkbp:diagnosedBy |
plasma amino acid analysis
plasma ammonia measurement |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
urea cycle disorders
|
| gptkbp:includes |
gptkb:N-acetylglutamate_synthase_deficiency
carbamoyl phosphate synthetase I deficiency ornithine transcarbamylase deficiency arginase deficiency argininosuccinate lyase deficiency argininosuccinate synthetase deficiency |
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vomiting
seizures lethargy developmental delay |
| gptkbp:treatment |
liver transplantation
low-protein diet ammonia scavenging drugs |
| gptkbp:triggeredBy |
infection
catabolic stress high protein intake |
| gptkbp:bfsParent |
gptkb:Neetrenaza
|
| gptkbp:bfsLayer |
6
|