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Article

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Human mutation - 1 Dec 2004

Lerner-Ellis Jordan P, Dobson C Melissa, Wai Timothy, Watkins David, Tirone Jamie C, Leclerc Daniel, Doré Carole, Lepage Pierre, Gravel Roy A, Rosenblatt David S

Abstract excerpt

Mutations in the MMAA gene on human chromosome 4q31.21 result in vitamin B12-responsive methylmalonic aciduria (cblA complementation group) due to deficiency in the synthesis of adenosylcobalamin. Genomic DNA from 37 cblA patients, diagnosed on the basis of cellular adenosylcobalamin synthesis, methylmalonyl-coenzyme A (CoA) mutase function, and complementation analysis, was analyzed for deleterious mutations in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15523652
DOI: 10.1002/humu.20104

Genes

MMAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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