Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without congenital anomalies and the late-onset type. There is much clinical heterogeneity in the presentation of late-onset variants; hence, the diagnosis is often delayed or missed. Here, we report the successful management of a 41-year-old female with late-onset MAAD due to mutation in the ETFDH gene who presented with carcinoma of the breast. Chemotherapy was challenging because there were no previous reports regarding the treatment of such cases. The diagnosis was made based on metabolic workup and gene mutation analysis. Unplanned surgery and chemotherapy can be fatal in these patients due to metabolic complications. With proper precautions and monitoring, the patient tolerated surgery and chemotherapy without any complications.

中文翻译：

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迟发性多酰基辅酶A脱氢酶缺乏症伴乳腺癌

多酰基辅酶A脱氢酶缺乏症（MAAD）是一种罕见的代谢紊乱，由脂肪酸氧化异常引起。有三种类型的表现：新生儿起病有或没有先天性异常和迟发型。迟发性变异的表现存在很多临床异质性；因此，诊断常常被延误或遗漏。在这里，我们报告了一名 41 岁女性因 ETFDH 基因突变而患乳腺癌的晚发性 MAAD 的成功治疗。化疗具有挑战性，因为之前没有关于此类病例治疗的报告。诊断基于代谢检查和基因突变分析。由于代谢并发症，这些患者的计划外手术和化疗可能是致命的。