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Article

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Journal of child neurology - 1 Feb 2015

Nogueira Célia, Meschini Maria Chiara, Nesti Claudia, Garcia Paula, Diogo Luisa, Valongo Carla, Costa Ricardo, Videira Arnaldo, Vilarinho Laura, Santorelli Filippo M

Abstract excerpt

Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive,...

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Topics

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24659738
DOI: 10.1177/0883073814527158

Genes

SUCLA2
SUCLG1

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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A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.PMID 24659738Read ↗

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

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.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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Disorders caused by deficiency of succinate-CoA ligase.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Semantic proximity Read ↗

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.Semantic proximity Read ↗

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.Semantic proximity Read ↗

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.Semantic proximity Read ↗

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

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

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

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