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2-methylbutyryl-CoA dehydrogenase deficiency

MeSH: C566487ORPHA: 79157

Contents

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

Overview

gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

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-methylbutyryl-CoA dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

Elevated circulating C5 acylcarnitine concentrationSeizureHypotoniaGlobal developmental delayFailure to thrive in infancyMicrocephalyAutismDelayed speech and language development2-ethylhydracylic aciduria

Classification & Codes

MeSH Code

C566487

Orphanet Code

ORPHA:79157
2-methylbutyryl-CoA dehydrogenase deficiency
MeSHC566487
OrphanetORPHA:79157
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO