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
31 clinical trials for this condition and its sub-types.
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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Hidden gut parasites could be making malnourished kids sicker
Knowledge-focused Not yet recruitingThis study in Assiut, Egypt, will check 116 children aged 2-15 for intestinal parasites to see if these infections are more common in malnourished kids compared to healthy ones. The goal is to understand how parasites like Giardia and hookworms might cause or worsen malnutrition …
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC