Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
High blood glutamate levels
Always present (100%)HP:0500149
Reduced hepatic N-acetylglutamate synthase activity
Always present (100%)HP:6000161
High blood ammonia levels
Very frequent (80-99%)HP:0001987
Alkalosis
Frequent (30-79%)HP:0001948
Anorexia
Frequent (30-79%)HP:0002039
Clonic seizure
Frequent (30-79%)HP:0020221
Hypertonia
Frequent (30-79%)HP:0001276
Hypothermia
Frequent (30-79%)HP:0002045
Hypotonia, early
Frequent (30-79%)HP:0008947
Low plasma citrulline
Frequent (30-79%)HP:0003572
Nausea
Frequent (30-79%)HP:0002018
Tachypnea
Frequent (30-79%)HP:0002789
Vomiting
Frequent (30-79%)HP:0002013
Acute hyperammonemia
Occasional (5-29%)HP:0008281
Agitation
Occasional (5-29%)HP:0000713
Anxiety disease
Occasional (5-29%)HP:0000739
Cognitive deficits
Occasional (5-29%)HP:0100543
Cognitive delay
Occasional (5-29%)HP:0001263
Confusion
Occasional (5-29%)HP:0001289
Difficulty staying or falling asleep
Occasional (5-29%)HP:0100785
Dullness
Occasional (5-29%)HP:0001254
Emotional lability
Occasional (5-29%)HP:0000712
Fainting
Occasional (5-29%)HP:0007185
Feeding difficulties
Occasional (5-29%)HP:0011968
Headache
Occasional (5-29%)HP:0002315
High plasma glutamine
Occasional (5-29%)HP:0003217
Increased blood alanine
Occasional (5-29%)HP:0003348
No appetite
Occasional (5-29%)HP:0004396
Poor speech
Occasional (5-29%)HP:0002465
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Quick Facts
- SNOMED CT
- 57119000
- UMLS CUI
- C0268543
- Fully Specified Name
- Hyperammonemia, type III (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.