Overview
CA-VA (carbonic anhydrase VA) 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.
3-hydroxyisovaleric aciduria
Always present (100%)HP:0033111
Elevated urinary 3-hydroxybutyric acid
Always present (100%)HP:0040155
Elevated urine acetoacetic acid level
Always present (100%)HP:0033407
High blood ammonia levels
Always present (100%)HP:0001987
Hyperalaninemia
Always present (100%)HP:0003348
Hyperprolinemia
Always present (100%)HP:0008358
Increased blood lactate
Always present (100%)HP:0002151
Increased urine lactate
Always present (100%)HP:0003648
Low blood sugar
Always present (100%)HP:0001943
Metabolic acidosis
Always present (100%)HP:0001942
Abnormal urine sebacic acid concentration
Frequent (30-79%)HP:0500251
Elevated urine suberic acid level
Frequent (30-79%)HP:0033213
High plasma glutamine
Frequent (30-79%)HP:0003217
Hypoargininemia
Frequent (30-79%)HP:0005961
Languor
Frequent (30-79%)HP:0001254
Low plasma citrulline
Frequent (30-79%)HP:0003572
Respiratory alkalosis
Frequent (30-79%)HP:0001950
Tachypnea
Frequent (30-79%)HP:0002789
Encephalopathy
Occasional (5-29%)HP:0001298
Frequent vomiting
Occasional (5-29%)HP:0002572
Hypernatremia
Occasional (5-29%)HP:0003228
Low blood ornithine levels
Occasional (5-29%)HP:0500163
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Yellowing of the skin
Occasional (5-29%)HP:0000952
Ketoacidosis
HP:0001993
Ketonaciduria
HP:0002919
Lacticacidosis
HP:0003128
Quick Facts
- SNOMED CT
- 764456001
- UMLS CUI
- C4706871
- Fully Specified Name
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.