very long chain acyl-CoA dehydrogenase deficiency
ORPHA: 26793
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with very long chain acyl-CoA dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
Increased circulating free fatty acid levelJaundiceSmall for gestational ageVentricular septal defectAtrial septal defectPatent foramen ovaleHypoketotic hypoglycemiaHypothermiaRespiratory distressHepatomegalyEpisodic tachypneaElevated circulating hepatic transaminase concentrationElevated circulating creatine kinase concentrationExercise-induced rhabdomyolysisFeeding difficultiesOverweightMacrocephalyLethargyObesityAnteriorly placed anusDilated cardiomyopathyTachycardiaProlonged QT intervalVentricular fibrillationAtrioventricular blockPericardial effusionMetabolic acidosisHyperammonemiaVomitingPneumoniaEnlarged cisterna magnaTachypneaHypocalcemiaHypoproteinemiaMuscle spasmVentricular tachycardiaFloppy infantInflammatory abnormality of the skinArrhythmiaPain
Classification & Codes
Orphanet Code
ORPHA:26793very long chain acyl-CoA dehydrogenase deficiency
| Orphanet | ORPHA:26793 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO