Disease Directory 2-methylbutyryl-CoA dehydrogenase deficiency
Rare Disease

2-methylbutyryl-CoA dehydrogenase deficiency

Type

Disease

Gene

ACADSB

About 2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyryl-CoA dehydrogenase deficiency is a rare disease catalogued by Orphanet (ORPHA:79157). It is associated with the ACADSB gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to 2-methylbutyryl-CoA dehydrogenase deficiency trials.

Search ClinicalTrials.gov for "2-methylbutyryl-CoA dehydrogenase deficiency" or filter by Orphanet code ORPHA:79157 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:79157)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting 2-methylbutyryl-CoA dehydrogenase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 2-methylbutyryl-CoA dehydrogenase deficiency. Updated daily.