acyl-CoA dehydrogenase 9 deficiency
MeSH: C567006ORPHA: 99901
Overview
Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy
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 acyl-CoA dehydrogenase 9 deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased activity of mitochondrial complex IGeneralized hypotoniaEncephalopathyHepatic steatosisFailure to thriveCongestive heart failureHypertrophic cardiomyopathyDilated cardiomyopathyThrombocytopeniaHyperammonemiaIncreased circulating lactate concentrationElevated circulating hepatic transaminase concentrationLactic acidosisMyopathyDecreased circulating carnitine concentrationGeneralized muscle weaknessMyalgiaEMG: myopathic abnormalitiesFatigable weaknessProlonged prothrombin timeElevated creatine kinase after exerciseIncreased circulating lactate dehydrogenase concentrationElevated circulating acylcarnitine concentrationSudden cardiac deathNonketotic hypoglycemiaCerebral edemaDicarboxylic aciduriaAcute hepatic failureCerebellar hemorrhage
Classification & Codes
MeSH Code
C567006Orphanet Code
ORPHA:99901acyl-CoA dehydrogenase 9 deficiency
| MeSH | C567006 |
| Orphanet | ORPHA:99901 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO