Methylmalonic acidemia due to transcobalamin receptor defect
MONDO:0013341Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
Also known as: CD320 methylmalonic acidemia, methylmalonic acidemia caused by mutation in CD320, methylmalonic acidemia, TCb1R type, methylmalonic acidemia, TCbIR type, methylmalonic aciduria due to transcobalamin receptor defect, methylmalonic acidemia, Tcblr type, methylmalonic aciduria, transient, due to transcobalamin receptor defect
11 clinical trials for this condition and its sub-types.
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Can a High-Calorie drink help malnourished kids grow?
Disease control Recruiting nowThis study tests whether daily high-calorie nutritional supplements can improve growth and development in 200 malnourished children aged 1 to 3 years. One group gets the supplements plus nutrition education, while the other gets only education and diet advice. Researchers will me…
Phase: NA • Sponsor: Children's Hospital of Chongqing Medical University • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
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Could a smaller dose of nutrients protect kids from malnutrition?
Prevention Recruiting nowThis study compares two types of nutrient supplements—small-quantity and medium-quantity—to see if the smaller one works just as well at preventing undernutrition in children aged 6 to 12 months. About 980 infants in Pakistan will receive one of the two supplements daily for 6 mo…
Phase: NA • Sponsor: Aga Khan University • Aim: Prevention
Last updated Aug 14, 2026 00:00 UTC
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Could Plant-Based hospital drinks be as good as Milk-Based ones? a new study aims to find out
Knowledge-focused Recruiting nowThis pilot study tests whether it's possible to run a larger trial comparing plant-based and animal-based oral nutritional supplements (ONS) in hospital patients at risk of malnutrition. Sixty patients from two Dutch hospitals will be randomly assigned to receive either a soy-bas…
Phase: NA • Sponsor: Radboud University Medical Center • Aim: Knowledge-focused
Last updated Aug 13, 2026 00:00 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