Overview
Citrullinaemia type 1 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.
High plasma glutamine
Always present (100%)HP:0003217
Oroticaciduria
Always present (100%)HP:0003218
Reduced hepatic argininosuccinate synthetase activity
Always present (100%)HP:6000353
Elevated plasma citrulline
Very frequent (80-99%)HP:0011966
High blood ammonia levels
Very frequent (80-99%)HP:0001987
Hepatic insufficiency
Frequent (30-79%)HP:0001399
Brain and/or spinal cord issue
Occasional (5-29%)HP:0000707
Cerebral vascular events
Occasional (5-29%)HP:0001297
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties
Occasional (5-29%)HP:0011968
Hepatic encephalopathy
Occasional (5-29%)HP:0002480
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Mental retardation, borderline
Occasional (5-29%)HP:0006889
Moderate mental retardation
Occasional (5-29%)HP:0002342
Respiratory alkalosis
Occasional (5-29%)HP:0001950
Torpor
Occasional (5-29%)HP:0001254
Undergrowth
Occasional (5-29%)HP:0001508
Vomiting
Occasional (5-29%)HP:0002013
Ankle clonus
Very rare (1-4%)HP:0011448
Ataxia
Very rare (1-4%)HP:0001251
Central hypotonia
Very rare (1-4%)HP:0001252
Fainting
Very rare (1-4%)HP:0007185
Gastro-esophageal reflux
Very rare (1-4%)HP:0002020
Headache
Very rare (1-4%)HP:0002315
Intermittent migraine headaches
Very rare (1-4%)HP:0002076
Mental retardation, mild
Very rare (1-4%)HP:0001256
Pseudotumor cerebri
Very rare (1-4%)HP:0002516
Scotoma
Very rare (1-4%)HP:0000575
Slurred speech
Very rare (1-4%)HP:0001350
Spasmodic torticollis
Very rare (1-4%)HP:0000473
Related Conditions
Quick Facts
- SNOMED CT
- 1149103000
- UMLS CUI
- C4721769
- Fully Specified Name
- Citrullinemia type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.