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Article

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Clinical genetics - 1 Jun 2015

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat L R, Ugarte M, Pérez B

Abstract excerpt

Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). This study reports differences in the metabolic and disease outcomes of two pairs of siblings with MMA cblB type, respectively harbouring the novel changes p.His183Leu/p.Arg190dup (P1 and P2) and the previously described mutations...

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Source

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Identifiers

PMID: 24813872
DOI: 10.1111/cge.12426
PMCID: PMC4687481

Genes

ATR
MMAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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