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Methylmalonic aciduria, cblB type

MONDO:0009614

An 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, 1 tagged with Methylmalonic aciduria, cblB type itself.

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↑ Vitamin B12-responsive methylmalonic acidemia (2)

Including sub-types (12) Tagged with Methylmalonic aciduria, cblB type (1)

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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, cblB type

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth