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Abstract：
Background Inborn errors of metabolism (IEM) are collectively rare but potentially preventable causes of sudden unexpected death (SUD) in infancy or childhood, and metabolic autopsy serves as the final tool for establishing the diagnosis. We conducted a retrospective review of the metabolic and molecular autopsy on SUD and characterized the biochemical and genetic findings. Methodology A retrospective review of postmortem metabolic investigations (dried blood spot acylcarnitines and amino acid analysis, urine metabolic profiling where available, and next-generation sequencing on a panel of 75 IEM genes) performed for infants and children who presented with SUD between October 2016 and December 2021 with inconclusive autopsy findings or autopsy features suspicious of underlying IEM in our locality was conducted. Clinical and autopsy findings were reviewed for each case. Results A total of 43 infants and children aged between zero days to 10 years at the time of death were referred to the authors\' laboratories throughout the study period. One positive case of multiple acyl-CoA dehydrogenase deficiency was diagnosed. Postmortem reference intervals for dried blood spot amino acids and acylcarnitines profile were established based on the results from the remaining patients. Conclusions Our study confirmed the importance of metabolic autopsy and the advantages of incorporating biochemical and genetic testing in this setting.
摘要：
背景：先天性代谢错误（IEM）是婴儿期或儿童期猝死（SUD）的罕见但潜在可预防的原因。代谢尸检是建立诊断的最终工具。我们对SUD的代谢和分子尸检进行了回顾性审查，并对生化和遗传发现进行了表征。方法对死后代谢调查的回顾性回顾（干血斑酰基肉碱和氨基酸分析，尿液代谢分析，并对2016年10月至2021年12月期间出现SUD的婴儿和儿童进行了75个IEM基因组的下一代测序),这些婴儿和儿童的尸检结果或尸检特征不确定,怀疑我们地区的潜在IEM.对每个病例的临床和尸检结果进行了回顾。结果在整个研究期间，共有43名婴儿和死亡时年龄在0天至10岁之间的儿童被转诊到作者的实验室。诊断为1例阳性的多酰基辅酶A脱氢酶缺乏症。根据其余患者的结果，建立了干血斑点氨基酸和酰基肉碱谱的死后参考间隔。结论我们的研究证实了代谢尸检的重要性以及在这种情况下结合生化和基因检测的优势。
