SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
| Autor: | Arjan P.M. de Brouwer, Saskia B. Wortmann, Richard J. Rodenburg, Roeltje Maas, Adela Della Marina, Ron A. Wevers |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Mitochondrial DNA Mutation ATP synthase biology SUCLA2 business.industry Coenzyme A 3-Methylglutaconic Aciduria Bioinformatics medicine.disease_cause Article chemistry.chemical_compound Endocrinology chemistry Internal medicine biology.protein Medicine Missense mutation Carnitine business medicine.drug |
| Zdroj: | JIMD Reports ISBN: 9783662504086 |
| Popis: | SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with a rare but distinctive deafness-dystonia syndrome. Additionally, they exhibit elevated levels of the characteristic biochemical markers: methylmalonate, C4-dicarboxylic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing SUCLA2 mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in SUCLA2 and review the patients described in literature. |
| Databáze: | OpenAIRE |
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