https://scholars.lib.ntu.edu.tw/handle/123456789/557823
標題: | A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan | 作者: | Kuo, Yih-Chih HSUEH-WEN HSUEH Hsueh, Sung-Ju NI-CHUNG LEE MING-JU HSIEH CHI-CHAO CHAO YIN-HSIU CHIEN PEI-HSIN HUANG Yang, Chih-Chao |
關鍵字: | Metabolic myopathy; Very-late-onset multiple acyl-coenzyme a dehydrogenase deficiency | 公開日期: | 三月-2021 | 卷: | 31 | 期: | 3 | 來源出版物: | Neuromuscular disorders : NMD | 摘要: | Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder with a dramatic clinical presentation. It was recently discovered that MADD may present at an advanced age. The clinical and laboratory data of an index patient and patients previously diagnosed at our institution were collected. A systematic review of previous studies retrieved from the PubMed, MEDLINE, and Embase databases published by February 1, 2020 was performed to collect patients with very-late-onset MADD (VLO-MADD, onset age > 60 years) globally and patients with late-onset MADD (LO-MADD, onset age < 60 years) in Taiwan. The clinical characteristics of the VLO-MADD patients were compared to those of LO-MADD patients. We report a patient with VLO-MADD who developed the first symptom at the age of 61 years. The patient presented with a Reye-like syndrome after taking aspirin for coronary artery disease. Repeated bouts of weakness were noted. Two variants of c.250 G > A (;) 419C > T were observed in the ETFDH gene. Another four patients with VLO-MADD were identified globally. Eighteen patients with LO-MADD were collected from our department and previously reported patients in Taiwan. There was no difference in the clinical symptoms (except for the onset age) or laboratory data between these two groups. Homozygous variants were not observed in any patients in the VLO-MADD group but were detected in 12 patients (66.6%) in the LO-MADD group (p = 0.014). Patients with MADD may first show symptoms in their 6th decade or beyond. The disease course may lead to erroneous diagnoses in this age group. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/557823 | ISSN: | 09608966 | DOI: | 10.1016/j.nmd.2021.01.006 | SDG/關鍵字: | acetylsalicylic acid; acyl coenzyme A dehydrogenase; riboflavin; Article; clinical feature; cohort analysis; coronary artery disease; data base; disease classification; disease course; ETFDH gene; gene; genetic variability; human; multiple acyl CoA dehydr |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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