Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO:0009612Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
Also known as: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonyl-CoA mutase deficiency, methylmalonyl-Coenzyme A mutase deficiency, vitamin B12-unresponsive methylmalonic aciduria, MCM deficiency, methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency, methylmalonic aciduria, mut type
4 clinical trials for this condition and its sub-types, 4 tagged with Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency itself.
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Browse by category →Sub-types of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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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 1/2 • 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 19, 2026 00:00 UTC