{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:18:44Z","timestamp":1777803524290,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2014,3,20]],"date-time":"2014-03-20T00:00:00Z","timestamp":1395273600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Succinyl\u2013coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl\u2013coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of \u03b1 and \u03b2 subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism. Metabolic investigations disclosed hyperlactacidemia, moderate urinary excretion of methylmalonic acid, and elevated levels of C4-dicarboxylic carnitine in blood. We identified a novel homozygous p.M329V in SUCLA2. In cultured cells, the p.M329V resulted in a reduced amount of the SUCLA2 protein, impaired production of mitochondrial ATP, and enhanced production of reactive oxygen species, which was partially reduced by using 5-aminoimidazole-4-carboxamide ribonucleotide in the culture medium. Expanding the array of SUCLA2 mutations, we suggested that reactive oxygen species scavengers are likely to impact on disease prognosis.<\/jats:p>","DOI":"10.1177\/0883073814527158","type":"journal-article","created":{"date-parts":[[2014,3,21]],"date-time":"2014-03-21T21:49:27Z","timestamp":1395438567000},"page":"228-232","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":17,"title":["A Novel\n                    <i>SUCLA2<\/i>\n                    Mutation in a Portuguese Child Associated With \u201cMild\u201d Methylmalonic Aciduria"],"prefix":"10.1177","volume":"30","author":[{"given":"C\u00e9lia","family":"Nogueira","sequence":"first","affiliation":[{"name":"Department of Genetics, National Institute of Health, INSA, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Chiara","family":"Meschini","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris, Pisa, 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