Common and Unusual Presentations of SUCLA2 Gene Mutations require thorough Diagnostic Work-up

Abstract

In a recent, interesting article, Güngör et al. reported about a 25 months-old male with Mitochondrial Depletion Syndrome (MDS) due to a novel mutation in the Succinate-CoA-ligase ADP-forming, beta-subunit (SUCLA2) gene [1]. Mutations in this gene result in succinate-CoA-ligase deficiency, a disorder of the mitochondrial tricarboxylic acid cycle [2]. Phenotypically the patient presented with encephalomyopathy, manifesting as microcephaly, basal-ganglia lesions, dystonia, absence of head and truncal control, failure to thrive, sensorineural hearing loss, quadruspasticity, and scoliosis [1]. We have the following comments and concerns.