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Article

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

American journal of medical genetics. Part A - 1 Oct 2017

Couser Natario L, Marchuk Daniel S, Smith Laurie D, Arreola Alexandra, Kaiser-Rogers Kathleen A, Muenzer Joseph, Pandya Arti, Gucsavas-Calikoglu Muge, Powell Cynthia M

Abstract excerpt

Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is...

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Identifiers

PMID: 28749033
DOI: 10.1002/ajmg.a.38351

Genes

SUCLA2

Variants

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.PMID 28749033Read ↗

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 ↗

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 ↗

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

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

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).Semantic proximity Read ↗

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

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.Semantic proximity Read ↗

Disorders caused by deficiency of succinate-CoA ligase.Semantic proximity Read ↗

Clinical and molecular features of mitochondrial DNA depletion syndromes.Semantic proximity Read ↗

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