Disease Directory Combined malonic and methylmalonic acidemia
Metabolic

Combined malonic and methylmalonic acidemia

Type

Disease

Gene

ACSF3

About Combined malonic and methylmalonic acidemia

Combined malonic and methylmalonic acidemia is a rare disease catalogued by Orphanet (ORPHA:289504). It is associated with the ACSF3 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 Combined malonic and methylmalonic acidemia trials.

Search ClinicalTrials.gov for "Combined malonic and methylmalonic acidemia" or filter by Orphanet code ORPHA:289504 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:289504)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Combined malonic and methylmalonic acidemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Combined malonic and methylmalonic acidemia. Updated daily.