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
31 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
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC