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2,4 Dienoyl-CoA reductase deficiency

MeSH: C565624ORPHA: 431361

Contents

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

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 2,4 Dienoyl-CoA reductase deficiency, sourced from HPO and Orphanet clinical annotations.

MicrocephalyNystagmusSeizureGlobal developmental delayChoreoathetosisCerebellar atrophyNeonatal hypotoniaDystoniaFailure to thrivePancreatitisRenal tubular acidosisOrganic aciduriaHypoplasia of the corpus callosumVentriculomegalyHyperlysinemiaLeukodystrophyProgressive encephalopathyNonprogressive cerebellar ataxiaProgressive spastic quadriplegiaDecreased activity of NADPH oxidaseDecreased circulating carnitine concentrationStress/infection-induced lactic acidosisCentral sleep apneaAbnormal circulating carnitine concentrationAspiration pneumoniaAbnormal involuntary eye movementsAbnormal basal ganglia MRI signal intensityCerebral visual impairment

Classification & Codes

MeSH Code

C565624

Orphanet Code

ORPHA:431361
2,4 Dienoyl-CoA reductase deficiency
MeSHC565624
OrphanetORPHA:431361
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO