Methylmalonic acidemia
MONDO:0002012A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
Also known as: methylmalonic aciduria, METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency, METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A, METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B, methylmalonic acidemia, cblA type, methylmalonic acidemia, cblB type, methylmalonic aciduria cblB type, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
8 clinical trials for this condition and its sub-types.
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Broader categories
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New mRNA therapy aims to control rare metabolic disease Long-Term
Disease control Recruiting nowThis study is testing the long-term safety of an mRNA therapy called mRNA-3705 in people with methylmalonic acidemia (MMA), a rare genetic disorder that prevents the body from breaking down certain proteins and fats. Participants have already been in earlier studies of this drug.…
Phase: PHASE1, PHASE2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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New study aims to track rare childhood disease for future treatments
Knowledge-focused Recruiting nowThis study follows up to 30 children (up to age 16) with a rare genetic condition called methylmalonic acidemia (MMA), which affects how the body processes food. The goal is to observe how the disease progresses over time by tracking specific blood tests and health signs. This in…
Sponsor: Genespire Srl • Aim: Knowledge-focused
Last updated Aug 18, 2026 05:00 UTC
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Scientists launch deep dive into rare metabolic disease MMA
Knowledge-focused Recruiting nowThis study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 01, 2026 00:00 UTC