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Article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Brain : a journal of neurology - 1 Mar 2007

Carrozzo Rosalba, Dionisi-Vici Carlo, Steuerwald Ulrike, Lucioli Simona, Deodato Federica, Di Giandomenico Sivia, Bertini Enrico, Franke Barbara, Kluijtmans Leo A J, Meschini Maria Chiara, Rizzo Cristiano, Piemonte Fiorella, Rodenburg Richard, Santer René, Santorelli Filippo M, van Rooij Arno, Vermunt-de Koning Diana, Morava Eva, Wevers Ron A

Abstract excerpt

One pedigree with four patients has been recently described with mitochondrial DNA depletion and mutation in SUCLA2 gene leading to succinyl-CoA synthase deficiency. Patients had a Leigh-like encephalomyopathy and deafness but besides the presence of lactic acidosis, the profile of urine organic acid was not reported. We have studied 14 patients with mild 'unlabelled' methylmalonic aciduria (MMA) from 11...

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Identifiers

PMID: 17301081
DOI: 10.1093/brain/awl389

Genes

SUCLA2

Variants

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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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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.PMID 17301081Read ↗

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Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.Semantic proximity Read ↗

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