Nogueira, CéliaMeschini, M.C.Nesti, C.Garcia, P.Diogo, L.Valongo, C.Costa, R.Videira, A.Vilarinho, L.Santorelli, F.M.2015-02-092015-02-092014-03-20J Child Neurol. 2015 Feb;30(2):228-32. doi: 10.1177/0883073814527158. Epub 2014 Mar 20http://hdl.handle.net/10400.18/2818Succinyl-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, 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.engSUCLA2EncephalomyopathyMethylmalonic AciduriaMitochondrial DNA DepletionSuccinate-coenzyme A LigaseDoenças Genéticasjournal article