Inborn disorder of cobalamin metabolism and transport
MONDO:0019220An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
Also known as: cobalamin deficiency, hypocobalaminemia, inborn disorder of cobalamin metabolism and transport, inborn error of cobalamin metabolic process, inborn vitamin B12 deficiency (disease), rare inborn error of cobalamin metabolic process, disorder of cobalamin metabolism and transport
14 clinical trials for this condition and its sub-types, 1 tagged with Inborn disorder of cobalamin metabolism and transport itself.
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Sub-types of Inborn disorder of cobalamin metabolism and transport
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Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types
6 sub-types
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Methylmalonic aciduria and homocystinuria type cblD 2 trials
- Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
- Methylmalonic aciduria and homocystinuria type cblF 1 trial
- Methylmalonic acidemia with homocystinuria, type cblX 0 trials
- Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
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Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
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Methylmalonic aciduria and/or homocystinuria, cblD type 0 trials · 2 incl. sub-types
3 sub-types
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Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types
3 sub-types
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1 sub-type
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Transcobalamin II deficiency 1 trial
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Imerslund-Grasbeck syndrome 0 trials
2 sub-types
- Imerslund-Grasbeck syndrome type 1 0 trials
- Imerslund-Grasbeck syndrome type 2 0 trials
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Transcobalamin I deficiency 0 trials
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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