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Article

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Molecular genetics and metabolism - 1 Mar 2006

Lerner-Ellis Jordan P, Gradinger Abigail B, Watkins David, Tirone Jamie C, Villeneuve Amélie, Dobson C Melissa, Montpetit Alexandre, Lepage Pierre, Gravel Roy A, Rosenblatt David S

Abstract excerpt

Methylmalonic aciduria, cblB type (OMIM 251110) is an inborn error of vitamin B(12) metabolism that occurs due to mutations in the MMAB gene. MMAB encodes the enzyme ATP:cobalamin adenosyltransferase, which catalyzes the synthesis of the coenzyme adenosylcobalamin required for the activity of the mitochondrial enzyme methylmalonyl CoA mutase (MCM). MCM catalyzes the isomerization of methylmalonyl CoA to succinyl...

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Identifiers

PMID: 16410054
DOI: 10.1016/j.ymgme.2005.11.011

Genes

MMAB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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