medium chain acyl-CoA dehydrogenase deficiency
ICD-10: E71.311MeSH: C536038ORPHA: 42
Overview
lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting
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 medium chain acyl-CoA dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaReduced tendon reflexesDecreased liver functionHyperammonemiaVomitingHepatomegalyDicarboxylic aciduriaFatigable weaknessProximal muscle weaknessExercise-induced myalgiaDecreased plasma total carnitineFatigable weakness of neck musclesMacrocephalyDelayed speech and language developmentAtaxiaLethargyComaHepatic steatosisCardiomegalyHypoglycemiaKetosisDiarrheaBilateral tonic-clonic seizureFebrile seizure (within the age range of 3 months to 6 years)Exertional dyspneaElevated circulating hepatic transaminase concentrationMyopathySkeletal muscle atrophyElevated circulating creatine kinase concentrationMuscle spasmCachexiaDistal arthrogryposisLoss of consciousnessArrhythmiaFatigueElevated urinary 3-hydroxybutyric acidAbnormal circulating lactate dehydrogenase concentration
Classification & Codes
ICD-10 Code
E71.311MeSH Code
C536038Orphanet Code
ORPHA:42medium chain acyl-CoA dehydrogenase deficiency
| ICD-10 | E71.311 |
| MeSH | C536038 |
| Orphanet | ORPHA:42 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO