Division of Child Neurology and Metabolic Medicine, Department of General Pediatrics, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleissheim, Germany.
Eur J Pediatr. 2022 Jun;181(6):2415-2422. doi: 10.1007/s00431-022-04421-y. Epub 2022 Mar 16.
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial β-oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. Introduction of tandem mass spectrometry-based newborn screening programs in the late 1990s has significantly reduced morbidity and mortality in MCAD deficiency; however, neonatal death in individuals with early disease manifestation and severe hypoglycemia may still occur. We describe the fatal disease course in eight newborns with MCAD deficiency, aiming to raise awareness for early clinical symptoms and the life-saving treatment, and promote systematic post-mortem protocols for biochemical and genetic testing, necessary for correct diagnosis and counselling of the family if unexpected death occurred in the neonatal period.Conclusion: Early newborn screening and awareness for clinical symptoms is lifesaving in MCAD deficiency, which may present with fatal neonatal crisis. Systematic post-mortem diagnostic protocols are needed for sudden neonatal deaths.
中链酰基辅酶 A 脱氢酶（MCAD）缺乏症是最常见的脂肪酸线粒体β氧化障碍，可导致酮体减少性低血糖、肝疾病，且在未经诊断的患儿中通常导致致命结局。20 世纪 90 年代后期，基于串联质谱的新生儿筛查方案的引入显著降低了 MCAD 缺乏症的发病率和死亡率；然而，在疾病早期表现和严重低血糖的个体中，仍可能发生新生儿死亡。我们描述了 8 例 MCAD 缺乏症新生儿的致死性疾病过程，旨在提高对早期临床症状和救命治疗的认识，并促进系统的死后生化和遗传学检测方案，这对于在新生儿期发生意外死亡时的正确诊断和咨询是必要的。
早期新生儿筛查和对临床症状的认识对于 MCAD 缺乏症是救命的，该病可能表现为致命的新生儿危象。对于突然的新生儿死亡，需要系统的死后诊断方案。
