Overview
Deficiency of acetyl-CoA carboxylase 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.
Central hypotonia
Always present (100%)HP:0001252
Cognitive delay
Always present (100%)HP:0001263
Higher than normal levels of lactate in blood
Always present (100%)HP:0002151
Reduced hepatic acetyl-CoA carboxylase activity
Always present (100%)HP:6000430
Myopathy
HP:0003198
Very poor growth
HP:0001510
Quick Facts
- SNOMED CT
- 4920001
- UMLS CUI
- C0268603
- Fully Specified Name
- Deficiency of acetyl-coenzyme A carboxylase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 6
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.