Overview
Deficiency of citrulline-aspartate ligase is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated plasma citrulline
Always present (100%)HP:0011966
High plasma glutamine
Always present (100%)HP:0003217
Oroticaciduria
Always present (100%)HP:0003218
Reduced hepatic argininosuccinate synthetase activity
Always present (100%)HP:6000353
Cerebral vascular events
Occasional (5-29%)HP:0001297
Ataxia
HP:0001251
Cerebral oedema
HP:0002181
Cirrhosis
HP:0001394
Enlarged liver
HP:0002240
Episodic ammonia intoxication
HP:0001951
High blood ammonia levels
HP:0001987
Hypoargininemia
HP:0005961
Irritable mood
HP:0000737
Nonprogressive mental retardation
HP:0001249
Protein avoidance
HP:0002038
Psychomotor development deficiency
HP:0001263
Respiratory alkalosis
HP:0001950
Seizures
HP:0001250
Torpor
HP:0001254
Trance
HP:0001259
Undergrowth
HP:0001508
Vomiting
HP:0002013
Related Conditions
Quick Facts
- SNOMED CT
- 124711003
- UMLS CUI
- C0175683
- Fully Specified Name
- Deficiency of argininosuccinate synthase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.