Overview
Carbamoyl-phosphate synthetase I deficiency 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.
Torpor
Always present (100%)HP:0001254
Abnormal urinary amino-acid findings
Very frequent (80-99%)HP:0003355
Episodic ammonia intoxication
Very frequent (80-99%)HP:0001951
High blood ammonia levels
Very frequent (80-99%)HP:0001987
Hypoargininemia
Very frequent (80-99%)HP:0005961
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Seizures
Very frequent (80-99%)HP:0001250
Cerebral vascular events
Occasional (5-29%)HP:0001297
Ataxia
HP:0001251
Cerebral oedema
HP:0002181
Irritable mood
HP:0000737
Low intelligence
HP:0001249
Low plasma citrulline
HP:0003572
Mental and motor retardation
HP:0001263
Persistent vegetative state
HP:0001259
Poor weight gain
HP:0001508
Protein avoidance
HP:0002038
Respiratory alkalosis
HP:0001950
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 765329008
- UMLS CUI
- C0751753
- Fully Specified Name
- Carbamoyl-phosphate synthetase 1 deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.