The Genotypic and Phenotypic Spectrum of Mto1 Deficiency

Abstract

• The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported • Hallmark features: cardiomyopathy, lactic acidosis, developmental delay, failure to thrive, seizures, optic atrophy, ataxia • 19 pathogenic MTO1 mutations (splice-site, frameshift, missense) were identified with a geno-phenotype relation • Suspect MTO1 deficiency based on clinical features, mitochondrial markers in body fluids, low complex I III IV activity • Although ketogenic diet exerted subjective improvement in some cases, there is exists no evidence-based effective therapy