ACADSB encodes acyl-CoA dehydrogenase short/branched chain (432 aa). Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA). Highest expression in Liver (97.0 TPM) and Brain Cerebellar Hemisphere (38.0 TPM).

2-methylbutyryl-CoA dehydrogenase deficiency is caused by mutations in the ACADSB gene on chromosome 10.

The ACADSB protein participates in alpha-methylbutyryl-CoA + FAD = tiglyl-CoA + FADH2 pathway.

ACADSB is classified as a druggable target (Enzyme category) with score 1.6.

52 pathogenic variants reported in ACADSB in ClinVar, including hotspot variants 4360895 and LRG_451p1:p.Met389Val (2-star review).

Genetic testing for ACADSB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for 2-methylbutyryl-CoA dehydrogenase deficiency has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for 2-methylbutyryl-CoA dehydrogenase deficiency.

10 publications have been identified in PubMed for 2-methylbutyryl-CoA dehydrogenase deficiency. Research spans Diagnostic / Biomarker (40%), Epidemiology / Natural History (40%), and Review / Meta-Analysis (10%).

Recent Publications

• Nasri M (2026). [PMID: 41527137](https://pubmed.ncbi.nlm.nih.gov/41527137/). *Orphanet journal of rare diseases*. [Diagnostic / Biomarker]

• Lin Y (2026). [PMID: 41892026](https://pubmed.ncbi.nlm.nih.gov/41892026/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]

• Zhang H (2025). [PMID: 40727585](https://pubmed.ncbi.nlm.nih.gov/40727585/). *Frontiers in genetics*. [Review / Meta-Analysis]

• Idárraga GDO (2025). [PMID: 40080775](https://pubmed.ncbi.nlm.nih.gov/40080775/). *JBRA assisted reproduction*. [Epidemiology / Natural History]

• Hong S (2025). [PMID: 40618281](https://pubmed.ncbi.nlm.nih.gov/40618281/). *Human molecular genetics*. [Basic Science / Preclinical]

• Lin Y (2025). [PMID: 40835664](https://pubmed.ncbi.nlm.nih.gov/40835664/). *Scientific reports*. [Epidemiology / Natural History]

• Huang S (2025). [PMID: 41440809](https://pubmed.ncbi.nlm.nih.gov/41440809/). *International journal of neonatal screening*. [Epidemiology / Natural History]

• Ou MM (2025). [PMID: 41357791](https://pubmed.ncbi.nlm.nih.gov/41357791/). *Frontiers in pediatrics*. [Diagnostic / Biomarker]

• Liu H (2025). [PMID: 40598537](https://pubmed.ncbi.nlm.nih.gov/40598537/). *Orphanet journal of rare diseases*. [Diagnostic / Biomarker]

• Xiao G (2024). [PMID: 38784038](https://pubmed.ncbi.nlm.nih.gov/38784038/). *Frontiers in genetics*. [Epidemiology / Natural History]