SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
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...
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Published in | JIMD Reports, Volume 27 Vol. 27; pp. 27 - 32 |
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Main Authors | , , , , , |
Format | Book Chapter Journal Article |
Language | English |
Published |
Berlin, Heidelberg
Springer Berlin Heidelberg
01.01.2016
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Series | JIMD Reports |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | Competing interests: None declared ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Communicated by: Wolfgang Sperl, MD, PhD |
ISBN: | 9783662504086 3662504081 |
ISSN: | 2192-8304 2192-8312 |
DOI: | 10.1007/8904_2015_464 |