Maduemem Kene Ebuka
Department of Paediatrics, Cork University Hospital Group, Cork, Ireland.
BMJ Case Rep. 2016 Nov 30;2016:bcr2016217538. doi: 10.1136/bcr-2016-217538.
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause of hypoketotic hypoglycaemia in a previously well child. MCADD is not part of newborn screening in Ireland; children are likely to be missed if routine hypoglycaemic screen is not instituted when blood glucose level is below 2.6 mmol/L. This is a case of an otherwise healthy 23-month-old baby girl who presented with severe hypoglycaemia with some initial diagnostic dilemma.
中链酰基辅酶A脱氢酶缺乏症（MCADD）是一种以常染色体隐性方式遗传的脂肪酸β氧化紊乱疾病。该酶在肝脏生酮过程中发挥作用，在长期禁食期间肝脏糖原储备耗尽时，生酮是能量的主要来源。它是导致先前健康儿童出现低酮性低血糖的一个原因。在爱尔兰，MCADD不属于新生儿筛查项目；如果在血糖水平低于2.6 mmol/L时未进行常规低血糖筛查，患儿很可能会被漏诊。本文报告了一例23个月大的健康女婴，她因严重低血糖就诊，最初存在一些诊断难题。
