Methylmalonic aciduria, cblA type

MONDO:0009613

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.

Also known as: Methylmalonic aciduria, vitamin B12-responsive, cblA type, cobalamin A disease, cobalamin B disease, methylmalonic acidemia cblA type, methylmalonic acidemia, cblA type, methylmalonic aciduria cblA type, methylmalonic aciduria, cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type

13 clinical trials for this condition and its sub-types, 2 tagged with Methylmalonic aciduria, cblA type itself.

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Where it sits in the disease tree

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↑ Vitamin B12-responsive methylmalonic acidemia (2)

Including sub-types (13) Tagged with Methylmalonic aciduria, cblA type (2)

Trials to join now! 1 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This 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

Methylmalonic aciduria, cblA type

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth