Abbasi Ezatolah, Ghazavi Ahad, Hassanvand Amouzadeh Masoud, Valizadeh Mohammad, Akhavan Sepahi Mohsen
Pediatric Neurologist, Urmia University of Medical Sciences, Urmia, Iran.
Neuroscience Research Center, Qom University of Medical Sciences, Qom, Iran.
Iran J Child Neurol. 2021 Fall;15(4):89-94. doi: 10.22037/ijcn.v15i4.23925.
Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid β- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no metabolic screening program except for phenylketonuria (PKU) and hypothyroidism in Iran, and such screening is exclusively implemented in the case of babies with unprovoked seizures and hypoglycemia and previous unexplained sibling deaths. In this paper, we report a case of a seven-year-old boy who presented with afebrile serial seizures leading to coma and death. IN this regard, metabolic screening tests were used to determine the exact cause of encephalopathy and the final diagnosis.
中链酰基辅酶A脱氢酶缺乏症（MCADD）是一种常染色体隐性脂肪酸β氧化障碍疾病，以常染色体隐性方式遗传。该酶在肝脏生酮过程中发挥作用，而生酮是长时间禁食期间的重要能量来源。在伊朗，除苯丙酮尿症（PKU）和甲状腺功能减退症外，没有代谢筛查项目，此类筛查仅在无故癫痫发作、低血糖以及之前有不明原因同胞死亡的婴儿中实施。在本文中，我们报告了一例7岁男孩病例，该男孩出现无热连续性癫痫发作，最终导致昏迷和死亡。在这方面，通过代谢筛查测试来确定脑病的确切病因及最终诊断。
