multiple acyl-CoA dehydrogenase deficiency
MeSH: D054069ORPHA: 26791
Overview
medical condition
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 multiple acyl-CoA dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaHypoglycemiaElevated circulating creatine kinase concentrationMyalgiaProximal muscle weaknessExercise-induced muscle fatiguePhenotypic abnormalityWide anterior fontanelHigh foreheadAbnormal pinna morphologyTelecanthusAbnormality of the skeletal systemSeizureAreflexiaDecreased liver functionAbnormal heart morphologyCongestive heart failureMetabolic acidosisHyperammonemiaVomitingDysphagiaDyspneaHepatomegalyHepatic periportal necrosisRespiratory failureElevated circulating hepatic transaminase concentrationLactic acidosisGlutaric aciduriaSkeletal muscle atrophyEthylmalonic aciduriaDecreased circulating carnitine concentrationHyperlordosis3-Methylglutaric aciduriaExercise intoleranceDifficulty climbing stairsLacticaciduriaDepressed nasal bridgeFeeding difficultiesIncreased intramyocellular lipid dropletsIncreased circulating lactate dehydrogenase concentrationFatigable weakness of neck musclesElevated circulating acylcarnitine concentrationAbnormality of the genital systemPolycystic kidney dysplasiaMacrocephalyEncephalopathyCardiomyopathyAcute pancreatitisRestrictive ventilatory defectGliosisGray matter heterotopiaPoor head controlInability to walkRhabdomyolysisScapular wingingCardiorespiratory arrestReye syndrome-like episodesArrhythmia
Classification & Codes
MeSH Code
D054069Orphanet Code
ORPHA:26791multiple acyl-CoA dehydrogenase deficiency
| MeSH | D054069 |
| Orphanet | ORPHA:26791 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO