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 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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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…
Phase: NA • Sponsor: Nutricia UK Ltd • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 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