Duran M, Bruinvis L, Ketting D, Dorland L
University Children's Hospital Het Wilhelmina Kinderziekenhius, Utrecht, The Netherlands.
Padiatr Padol. 1993;28(1):19-25.
Inherited defects of mitochondrial beta-oxidation of fatty acids lead to hypoketotic hypoglycemia during prolonged fasting. Affected patients may present with episodes of a Reye-like illness or even sudden child death. The number of currently detected patients with medium-chain acyl-CoA dehydrogenase deficiency--the most common disease in this area--is indicative of a high frequency, possibly comparable to that of phenylketonuria. A comprehensive system of biochemical analyses is described, which enables the differential diagnosis of the various defects. An indispensable part of the diagnostic system is the gas chromatographic/mass spectrometric analysis of plasma and urinary organic acids. A correct diagnosis is a prerequisite for the installment of specific treatment.
脂肪酸线粒体β氧化的遗传缺陷会导致长时间禁食期间出现低酮性低血糖。受影响的患者可能会出现类似瑞氏综合征的发作，甚至突然猝死。目前检测到的中链酰基辅酶A脱氢酶缺乏症患者数量——该领域最常见的疾病——表明其发病率很高，可能与苯丙酮尿症相当。本文描述了一个全面的生化分析系统，该系统能够对各种缺陷进行鉴别诊断。诊断系统中不可或缺的一部分是血浆和尿液有机酸的气相色谱/质谱分析。正确诊断是实施特定治疗的前提条件。
