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Article

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Brain : a journal of neurology - 1 Mar 2007

Ostergaard Elsebet, Hansen Flemming J, Sorensen Nicolina, Duno Morten, Vissing John, Larsen Pernille L, Faeroe Oddmar, Thorgrimsson Sigurdur, Wibrand Flemming, Christensen Ernst, Schwartz Marianne

Abstract excerpt

We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency of 1 in 33. The symptoms comprise hypotonia, muscle atrophy, hyperkinesia, severe hearing impairment and postnatal growth retardation. Neuroimaging showed demyelination and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17287286
DOI: 10.1093/brain/awl383

Genes

SUCLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.PMID 17287286Read ↗

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

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.Semantic proximity Read ↗

[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].Semantic proximity Read ↗

Novel mutation in SUCLA2 identified on sequencing analysis.Semantic proximity Read ↗

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.Semantic proximity Read ↗

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.Semantic proximity Read ↗

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Semantic proximity Read ↗

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.Semantic proximity Read ↗

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Clinical and Genetic Characteristics of Mitochondrial DNA Depletion Syndrome Associated with SUCLG1 Variants in China.Semantic proximity Read ↗

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.Semantic proximity Read ↗

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