Division of Metabolic Disorders, CHOC Children's, 455 S. Main St., Orange, CA 92868, USA.
Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27.
Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. Newborn screening has also been shown to detect previously undiagnosed maternal inborn errors of metabolism. We have now diagnosed two women with MCADD following the identification of low free carnitine in their newborns. While one of the women reported prior symptoms of fasting intolerance, neither had a history of metabolic decompensation or other symptoms consistent with a fatty acid oxidation disorder. These cases illustrate the importance of including urine organic acid analysis and an acylcarnitine profile as part of the confirmatory testing algorithm for mothers when low free carnitine is identified in their infants.
在新生儿筛查扩大之前，暴发性和原因不明的死亡往往是中链酰基辅酶 A 脱氢酶缺乏症 (MCADD) 的第一个也是唯一的症状。随着串联质谱技术的应用，现在可以在危及生命的代谢失代偿发生之前识别和治疗婴儿。新生儿筛查还显示可检测到先前未诊断的母体先天性代谢错误。在他们的新生儿中发现游离肉碱水平较低后，我们现在已经诊断出两名患有 MCADD 的女性。虽然其中一名女性报告有禁食不耐受的既往症状，但两人均无代谢失代偿或其他与脂肪酸氧化障碍一致的症状。这些病例说明，当在婴儿中发现游离肉碱水平较低时，将尿液有机酸分析和酰基肉碱谱作为母亲的确认性检测算法的一部分是很重要的。
