Methylmalonic aciduria and homocystinuria
MONDO:0016826An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
Also known as: combined defect in adenosylcobalamin and methylcobalamin synthesis, methylmalonic aciduria with homocystinuria, methylmalonic acidemia and homocystinemia
24 clinical trials for this condition and its sub-types, 1 tagged with Methylmalonic aciduria and homocystinuria itself.
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Sub-types of Methylmalonic aciduria and homocystinuria
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New blood treatment could block zika in transfusions
Disease control OngoingThis study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…
Phase 3 • Sponsor: Cerus Corporation • Aim: Disease control
Last updated Jun 27, 2026 11:03 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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Real food tube feeds: a kinder option for kids?
Symptom relief OngoingThis study looks at how well children aged 1 to 16 tolerate and accept new nutritional feeds made from real food ingredients. The feeds are given through a tube or as a drink. Researchers will track stomach issues like pain, bloating, and nausea over 28 days. The goal is to see i…
Sponsor: Nutricia UK Ltd • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC