PDF(Pubmed)
Abstract：
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. MCAD is essential for fatty acid β-oxidation during hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores are exhausted during extended fasting and periods of increased energy demand. The inability to metabolize these fatty acids results in hypoketotic hypoglycemia and the accumulation of toxic partially metabolized fatty acids. Intercurrent infection, extended fasting, excessive alcohol intake, vomiting, or diarrhea can lead to serious illness, including encephalopathy and even sudden death. Young people with MCADD are followed up on a regular basis by their metabolic disease specialist, and they are informed about risk factors as they advance through adolescence and adulthood. They should also carry along a written emergency management plan and relevant contact numbers. We describe a case of a 17-year-old female who attended her local emergency care center complaining of severe abdominal pain, vomiting, muscle ache, and poor oral intake. She was known to have MCADD; however, her emergency care plan had a date from eight years ago. She made a rapid recovery after receiving intravenous glucose and other therapies. The patient\'s concerns and knowledge about MCADD were not fully appreciated at the initial stage due to the rare nature of the disease. This in combination with the absence of current notes on the system, an emergency care plan dated from eight years ago, and the need to obtain specialist advice led to a slight delay in commencing specific therapy. This case report serves as a reminder of the emergency presentation of young people with MCADD, emphasizing the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.
摘要：
中链酰基辅酶A脱氢酶（MCAD）缺乏症（MCADD）是线粒体脂肪酸氧化的罕见常染色体隐性遗传先天性错误。MCAD对肝生酮过程中脂肪酸β-氧化至关重要,一旦肝糖原储存在延长禁食和能量需求增加的时期耗尽，它提供了主要的能量来源。不能代谢这些脂肪酸导致低酮症性低血糖和有毒的部分代谢脂肪酸的积累。并发感染,延长禁食，过量饮酒,呕吐,或者腹泻会导致严重的疾病，包括脑病甚至猝死.患有MCADD的年轻人由他们的代谢疾病专家定期随访，当他们进入青春期和成年期时，他们会被告知风险因素。他们还应携带书面应急管理计划和相关联系电话。我们描述了一个17岁的女性，她在当地的急诊护理中心抱怨严重的腹痛，呕吐,肌肉疼痛，和不良的口服摄入量。众所周知，她患有MCADD；然而，她的紧急护理计划有八年前的约会。在接受静脉注射葡萄糖和其他治疗后，她迅速康复。由于该疾病的罕见性质，患者对MCADD的担忧和知识在初始阶段未得到充分认识。这与系统上没有当前注释的情况相结合，八年前的紧急护理计划，并且需要获得专家建议导致开始特定治疗的轻微延迟。此病例报告提醒了MCADD年轻人的紧急情况，强调患者之间有效沟通的重要性，他们的父母,和治疗的临床医生，获得紧急护理计划和建议，并与代谢疾病专家沟通。
