Serena Galosi, Cecilia Mancini, Anna Commone, Paolo Calligari, Viviana Caputo, Francesca Nardecchia, Claudia Carducci, Lambertus P van den Heuvel, Simone Pizzi, Alessandro Bruselles, Marcello Niceta, Simone Martinelli, Richard J Rodenburg, Marco Tartaglia, Vincenzo Leuzzi
BACKGROUND: The MRPS36 gene encodes a recently identified component of the 2-oxoglutarate dehydrogenase complex (OGDHC), a key enzyme of the Krebs cycle catalyzing the oxidative decarboxylation of 2-oxoglutarate to succinyl-CoA. Defective OGDHC activity causes a clinically variable metabolic disorder characterized by global developmental delay, severe neurological impairment, liver failure, and early-onset lactic acidosis. METHODS: We investigated the molecular cause underlying Leigh syndrome with bilateral striatal necrosis in two siblings through exome sequencing...
April 30, 2024: Movement Disorders: Official Journal of the Movement Disorder Society