{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tang Z"],"funding":["Natural Science Foundation of Hunan Province","National Natural Science Foundation of China"],"pagination":["747360"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8606537"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12"],"pubmed_abstract":["<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 was"],"journal":["Frontiers in neurology"],"pubmed_title":["Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <i>ETFDH</i> Mutations in Five Patients: A Case Series."],"pmcid":["PMC8606537"],"funding_grant_id":["81901306","2021JJ40857"],"pubmed_authors":["Tang Z","Tang J","Chen Q","Fang J","Huang H","He M","Luo Y","Gao S","Yan W","Shi X"],"additional_accession":[]},"is_claimable":false,"name":"Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to <i>ETFDH</i> Mutations in Five Patients: A Case Series.","description":"<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 was","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-04-19T08:26:25.364Z","creation":"2022-02-11T13:12:49.081Z"},"accession":"S-EPMC8606537","cross_references":{"pubmed":["34819910"],"doi":["10.3389/fneur.2021.747360"]}}