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Metabolic Autopsy and Molecular Autopsy in Sudden Unexpected Death in Infancy

  • Takuma YamamotoEmail author
  • Hajime Nishio
Chapter
Part of the Current Human Cell Research and Applications book series (CHCRA)

Abstract

Metabolic diseases are one of the main causes of sudden infant death, but definitive postmortem diagnosis is difficult, because metabolic diseases are functional and have fewer morphological abnormalities. Metabolic autopsy is a procedure that focuses on metabolic diseases, which includes the analysis of metabolic products or genetic analysis. However, it is not routinely performed, and only a small number of cases of sudden death with metabolic diseases have been reported in Japan. Furthermore conventional genetic analysis is “one gene, one exon at a time” and is therefore time-consuming and effort-intensive. Recently, next-generation sequencing methods have become available and can comprehensively screen numerous genes, making the technique practical for sudden death in the field of forensic science. In this chapter, we describe the basis of metabolic disease and discuss several case reports. Furthermore, we introduce a recent study into sudden unexpected death in infancy from the perspective of “functional autopsy.” Some causes of sudden infant death are inherited diseases, and accurate diagnosis, even postmortem, can prevent further tragedies among the remaining family.

Keywords

Metabolic autopsy Sudden infant death Inherited disease Functional autopsy Preventable death 

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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Legal MedicineHyogo College of MedicineNishinomiyaJapan

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