Francesco Macchione, Leonardo Salviati, Andrea Bordugo, Monica Vincenzi, Marta Camilot, Francesca Teofoli, Elia Pancheri, Roberta Zordan, Cinzia Bertolin, Silvia Rossi, Gaetano Vattemi, Paola Tonin
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation...
January 29, 2020: Journal of Neurology