Methylmalonic aciduria and/or homocystinuria, cblD type
MONDO:0100463An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.
13 clinical trials for this condition and its sub-types.
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Broader categories
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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