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Article

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Molecular genetics and metabolism - 1 Apr 2005

Martínez Maria Angeles, Rincón Ana, Desviat Lourdes R, Merinero Begoña, Ugarte Magdalena, Pérez Belén

Abstract excerpt

Isolated methylmalonic aciduria (MMA) is an inborn error of metabolism due to the impaired isomerization of l-methylmalonyl-CoA to succinyl-CoA. This reaction is catalyzed by the mitochondrial protein methylmalonyl-CoA mutase (MCM, EC 5.4.99.2), an adenosylcobalamin-dependent enzyme. Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically...

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Source

Identifiers

PMID: 15781192
DOI: 10.1016/j.ymgme.2004.11.011

Genes

MMAA
MMAB

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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