Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital Yunlin Branch, College of Medicine, National Taiwan University, Yunlin, Taiwan.
Neuromuscul Disord. 2021 Mar;31(3):218-225. doi: 10.1016/j.nmd.2021.01.006. Epub 2021 Jan 13.
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.
多种酰基辅酶 A 脱氢酶缺乏症（MADD）是一种罕见的代谢紊乱疾病，临床表现明显。最近发现 MADD 可能在老年时出现。收集了一位索引患者和我们机构以前诊断的患者的临床和实验室数据。对从 2020 年 2 月 1 日之前发表在 PubMed、MEDLINE 和 Embase 数据库中的以前的研究进行了系统回顾，以收集全球范围内非常迟发性 MADD（VLO-MADD，发病年龄>60 岁）和台湾地区迟发性 MADD（LO-MADD，发病年龄<60 岁）的患者。将 VLO-MADD 患者的临床特征与 LO-MADD 患者进行了比较。我们报告了一位 VLO-MADD 患者，他在 61 岁时首次出现症状。该患者因冠状动脉疾病服用阿司匹林后出现类似 Reye 综合征的表现。反复出现无力。在 ETFDH 基因中观察到两个变体 c.250 G > A (；) 419C > T。在全球范围内还确定了另外 4 名 VLO-MADD 患者。从我们部门和以前在台湾报告的患者中收集了 18 名 LO-MADD 患者。这两组患者的临床症状（除发病年龄外）或实验室数据无差异。在 VLO-MADD 组中没有观察到纯合变体，但在 LO-MADD 组中检测到 12 名患者（66.6%）（p=0.014）。MADD 患者可能在其 60 多岁或以后首次出现症状。在这个年龄段，疾病过程可能导致误诊。
