Methylmalonic aciduria, cblB type
MONDO:0009614An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
Also known as: methylmalonic acidemia cblB type, methylmalonic acidemia, cblB type, methylmalonic aciduria, cblB type, methylmalonic aciduria, vitamin B12-responsive, cblB type, vitamin B12-responsive methylmalonic acidemia type cblB, vitamin B12-responsive methylmalonic aciduria, type cblB, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type
12 clinical trials for this condition and its sub-types.
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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…
Phase: NA • Sponsor: Nutricia UK Ltd • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC