دورية أكاديمية
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series
| العنوان: | Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series |
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| المؤلفون: | Zhenchu Tang, Shan Gao, Miao He, Qihua Chen, Jia Fang, Yingying Luo, Weiqian Yan, Xiaoliu Shi, Hui Huang, Jianguang Tang |
| المصدر: | Frontiers in Neurology, Vol 12 (2021) |
| بيانات النشر: | Frontiers Media S.A., 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | ETFDH, riboflavin, mutation, late-onset MADD, molecular analysis, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by ETFDH 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.Methods: 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.Results: This study included three males and two females with mean onset age of 37.8 years. Fluctuating exercise intolerance was the most common presentation. Serum creatine kinase (CK) levels were significantly elevated in all patients, and plasma acylcarnitine profiles revealed an increase in long-chain acylcarnitine species in three cases. The urinary organic acid study revealed a high level of hydroxyglutaric acid in all patients. Electrophysiology demonstrated myogenic impairment. Muscle biopsies revealed lipid storage myopathy. Molecular analysis identified nine mutations (three novels and six reported) in ETFDH. Exercise intolerance and muscle weakness were dramatically improved in all patients treated with riboflavin (100 mg) daily following diagnosis.Conclusions: LO-MADD is caused by ETFDH variants and responds well to riboflavin. Three novel ETFDH pathogenic variants were identified, expanding their spectrum in the Chinese population and facilitating future interpretation and analysis of ETFDH mutations. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1664-2295 04086708 |
| Relation: | https://www.frontiersin.org/articles/10.3389/fneur.2021.747360/full; https://doaj.org/toc/1664-2295 |
| DOI: | 10.3389/fneur.2021.747360 |
| URL الوصول: | https://doaj.org/article/e20ff4dec32548e2b21f04086708c4b2 |
| رقم الأكسشن: | edsdoj.20ff4dec32548e2b21f04086708c4b2 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 16642295 04086708 |
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| DOI: | 10.3389/fneur.2021.747360 |