OrphanDrug
OrphanDrug
Pharma Knowledge Base

Isobutyryl-coenzyme A dehydrogenase deficiency

MeSH: C535541ORPHA: 79159

Contents

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

Overview

gene (11q25)

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 Isobutyryl-coenzyme A dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

Dicarboxylic aciduriaDecreased circulating carnitine concentrationElevated circulating acylcarnitine concentrationDelayed speech and language developmentHypotoniaPulmonic stenosisDilated cardiomyopathyDehydrationVomitingMild global developmental delayKetotic hypoglycemia

Classification & Codes

MeSH Code

C535541

Orphanet Code

ORPHA:79159
Isobutyryl-coenzyme A dehydrogenase deficiency
MeSHC535541
OrphanetORPHA:79159
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO