Hoflack M, Caruba C, Pitelet G, Haas H, Mas J-C, Paquis V, Berard E
Service de pédiatrie, hôpital de l'Archet II, 151 route de Saint-Antoine-de-Ginestière, Nice cedex 3, France.
Arch Pediatr. 2010 Jul;17(7):1074-7. doi: 10.1016/j.arcped.2010.03.011.
Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation.
中链酰基辅酶A脱氢酶缺乏症（MCAD）是最常见的脂肪酸氧化障碍之一。如果未被识别，其临床表现可能很严重并导致死亡。这些表现并不具有特异性，在神经学表现方面可能类似脑膜炎或急性肠套叠。早期识别MCAD并对并发疾病进行症状前治疗可改善短期和长期预后。MCAD缺乏症符合新生儿筛查的主要标准。我们报告了2例表现典型且严重的患者病例。MCAD缺乏症的早期诊断有助于对两名患者均开始采取简单的治疗措施，旨在防止进一步失代偿。
