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short-chain acyl-coenzyme A dehydrogenase deficiency

MeSH: C537596ORPHA: 26792

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids

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 short-chain acyl-coenzyme A dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

Failure to thriveMetabolic acidosisEthylmalonic aciduriaFloppy infantFeeding difficultiesNeurodevelopmental delayElevated circulating acylcarnitine concentrationIncreased level of methylsuccinic acid in urineAtypical behaviorDelayed speech and language developmentSeizureLethargyDystoniaHepatic steatosisCardiomyopathyAbnormal facial shapeRespiratory distressMyopathyHypoglycemic encephalopathyKetotic hypoglycemiaMicrocephalyOptic atrophyHypertoniaIntrauterine growth retardation

Classification & Codes

MeSH Code

C537596

Orphanet Code

ORPHA:26792
short-chain acyl-coenzyme A dehydrogenase deficiency
MeSHC537596
OrphanetORPHA:26792
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO