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中链酰基辅酶A脱氨酶缺乏症(MCADD)是脂肪酸氧化缺陷病中最常见的一种,其发病率与苯丙酮尿症相当,临床表现主要为低酮性低血糖、呕吐和肌无力。串联质谱方法能检测出无症状的MCADD新生儿血浆中升高的酰基肉碱,兼有敏感度高、特异性高、自动化程度高、高通量等特点。约24％病人第一次发作即导致死亡,32％存活者有心理行为问题或神经功能障碍。若经新生儿疾病筛查得到诊断,现有的预防和治疗效果均较满意。MCADD符合新生儿筛查病种入选标准,部分发达国家已将此病列入新生儿疾病常规筛查项目。
Medium chain acyl coenzyme A deaminase deficiency (MCADD) is one of the most common fatty acid oxidation deficiency disease, its incidence and phenylketonuria, the clinical manifestations of hypokalemic hypoglycemia, vomiting and muscle weakness. Tandem mass spectrometry can detect elevated acylcarnitine in asymptomatic MCADD neonate with high sensitivity, specificity, high degree of automation and high throughput. About 24% of the patients first died of the disease and 32% of the survivors had psychological or behavioral problems or neurological dysfunction. If the diagnosis of neonatal disease screening, the existing prevention and treatment are more satisfactory. MCADD meet the inclusion criteria for neonatal screening disease, some developed countries have included the disease routine screening of neonatal diseases.