Deficiency of acetyl-CoA carboxylase

disorder

SNOMED 4920001CUI C0268603

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

Related Conditions

Non-amino organic acidemia AND/OR aciduria(parent)

Inborn error of metabolism(parent)

Specific enzyme deficiency(parent)

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.