biostudies-literatureTang ZNatural Science Foundation of Hunan ProvinceNational Natural Science Foundation of China747360https://www.ebi.ac.uk/biostudies/studies/S-EPMC8606537biostudies-literatureUnknown12<b>Background:</b> Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by <i>ETFDH</i> mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients. <b>Methods:</b> From 2018 to 2021, we collected clinical and genetic data on five patients diagnosed with LO-MADD at our hospital and retrospectively analyzed their clinical characteristics, laboratory examination, electromyography, muscle biopsy, genetic analysis, and outcome data. <b>Results:</b> This study included three males and two females with mean onset age of 37.8 years. Fluctuating exercise intolerance wasFrontiers in neurologyClinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <i>ETFDH</i> Mutations in Five Patients: A Case Series.PMC8606537819013062021JJ40857Tang ZTang JChen QFang JHuang HHe MLuo YGao SYan WShi XfalseClinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <i>ETFDH</i> Mutations in Five Patients: A Case Series.<b>Background:</b> Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by <i>ETFDH</i> mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients. <b>Methods:</b> From 2018 to 2021, we collected clinical and genetic data on five patients diagnosed with LO-MADD at our hospital and retrospectively analyzed their clinical characteristics, laboratory examination, electromyography, muscle biopsy, genetic analysis, and outcome data. <b>Results:</b> This study included three males and two females with mean onset age of 37.8 years. Fluctuating exercise intolerance was2021-01-01T00:00:00Z20212025-04-19T08:26:25.364Z2022-02-11T13:12:49.081ZS-EPMC86065373481991010.3389/fneur.2021.747360