Leonard J V, Dezateux C
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.
Arch Dis Child. 2009 Mar;94(3):235-8. doi: 10.1136/adc.2007.134957. Epub 2008 Oct 6.
Medium chain acyl CoA dehydrogenase deficiency (MCADD) is an uncommon inborn error of fatty acid oxidation that is a preventable cause of morbidity and mortality. Newborn screening for MCADD has been introduced in many centres worldwide and in this review we outline what the clinician needs to know. In most screening programmes a positive screening test has a high predictive value, but the diagnosis should always be confirmed independently. The basic treatment is dietary: avoid fasting and ensure a high carbohydrate intake during any illness. Careful attention to detail is essential as the long term outcome is only as good as the frontline clinical management.
中链酰基辅酶A脱氢酶缺乏症（MCADD）是一种罕见的脂肪酸氧化先天性代谢缺陷病，是可预防的发病和死亡原因。全球许多中心已开展MCADD新生儿筛查，在本综述中，我们概述了临床医生需要了解的内容。在大多数筛查项目中，筛查试验阳性具有较高的预测价值，但诊断始终应独立确认。基本治疗方法是饮食调整：避免禁食，并在任何疾病期间确保高碳水化合物摄入。由于长期预后仅取决于一线临床管理，因此必须注重细节。
