very long chain acyl-CoA dehydrogenase deficiency
Findings
No curated finding names very long chain acyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Definition from the Mondo Disease Ontology (MONDO:0008723), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating carnitine concentrationHPOHP:0003234
- 3 of 3 reported patients
- Episodic vomitingHPOHP:0002572
- 3 of 3 reported patients
- Hepatic steatosisHPOHP:0001397
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- HyperammonemiaHPOHP:0001987
- 3 of 3 reported patients
- Very rare (1% to 4% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 3 reported patients
Show the remaining 42
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
- Episodic tachypneaHPOHP:0002876
- Occasional (5% to 29% of cases)
- Exercise-induced rhabdomyolysisHPOHP:0009045
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACADVLHGNC:92
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: very long chain acyl-CoA dehydrogenase deficiency
- Also called
- acyl-CoA dehydrogenase, very long-chain deficiencyVery Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)very long-chain acyl-CoA dehydrogenase deficiencyvery long-chain acyl-Coenzyme A dehydrogenase deficiencyVLCADVLCAD deficiencyVLCADD