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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Gene therapy for rare metabolic disease passes early safety check
Disease control OngoingThis study follows 4 people with methylmalonic acidemia who previously received hLB-001 gene therapy. Researchers are checking for long-term side effects. The goal is to see if the treatment remains safe over time.
Sponsor: Alexion Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:02 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC