Cytosolic acetoacetyl-CoA thiolase deficiency

disorder

SNOMED 237955004CUI C0342735

Overview

Cytosolic acetoacetyl-CoA thiolase 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.

Choreatic disease

HP:0002072

Generalised decreased muscle tone

HP:0001290

Higher than normal levels of lactate in blood

HP:0002151

Increased serum pyruvate

HP:0003542

Mental and motor retardation

HP:0001263

Muscular hypotonia

HP:0001252

Related Conditions

Deficiency of acetoacetyl-CoA thiolase(parent)

Quick Facts

SNOMED CT: 237955004
UMLS CUI: C0342735
Fully Specified Name: Cytosolic acetoacetyl-coenzyme A thiolase deficiency (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.