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Postmortem Investigations

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Inherited Metabolic Diseases
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Abstract

Sudden unexpected death at all ages may be the first manifestation of an undiagnosed fatty acid oxidation disorder especially in a population born before the implementation of expanded newborn screening. A simple and cost-effective biochemical method for postmortem screening is based on the concurrent analysis of acylcarnitine species by tandem mass spectrometry in postmortem blood and bile, spotted on filter paper.

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References

  • Bennett MJ, Rinaldo P (2001) The metabolic autopsy comes of age. Clin Chem 47:1145–1146

    CAS  PubMed  Google Scholar 

  • Boles RG, Buck EA, Blitzer MG, Platt MS, Martin SK, Yoon HR, Madsen JA, Reyes-Mugica M, Rinaldo P (1998) Retrospective biochemical screening of fatty acid oxidation disorders in postmortem liver of 418 cases of sudden unexpected death in the first year of life. J Pediatr 132:924–933

    Article  CAS  PubMed  Google Scholar 

  • Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW (2001) Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 47:1166–1182

    CAS  PubMed  Google Scholar 

  • Dott M, Chace D, Fierro M, Kalas TA, Hannon WH, Williams J, Rasmussen SA (2006) Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study. Am J Med Genet A 140:837–842

    Article  PubMed  Google Scholar 

  • Gray RG, Ryan D, Green A (1995) The cryopreservation of skin biopsies – a technique for reducing workload in a cell culture laboratory. Ann Clin Biochem 32:190–192

    Article  PubMed  Google Scholar 

  • Lewis MH, Goldenberg A, Anderson R, Rothwell E, Botkin J (2011) State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics 127:703–712

    Article  PubMed  PubMed Central  Google Scholar 

  • Randall M, Rolf C, Mayfield Gibson S, Hall PL, Rinaldo P, Gregory J, Davis GJ (2015) Medium-chain acyl-CoA dehydrogenase deficiency in adulthood: a potential diagnosis in a patient with mental status changes suspected of drug toxicity. J Forensic Sci 60:1101–1103

    Article  CAS  PubMed  Google Scholar 

  • Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P (1995) Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41:1109–1114

    CAS  PubMed  Google Scholar 

  • Raymond K, Bale AE, Barnes CA, Rinaldo P (1999) Sudden adult death and medium-chain acyl-CoA dehydrogenase deficiency. Genet Med 1:293–294

    Article  CAS  PubMed  Google Scholar 

  • Rinaldo P, Matern D, Bennett MJ (2002) Fatty acid oxidation disorders. Ann Rev Physiol 64:16.1–26

    Article  Google Scholar 

  • Rinaldo P, Hahn SH, Matern D (2005) Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE (eds) Tietz textbook of clinical chemistry and molecular diagnostics, 4th edn. Elsevier Saunders, St. Louis, pp 2207–2247

    Google Scholar 

  • Rosenthal NA, Currier RJ, Baer RJ, Feuchtbaum L, Jelliffe-Pawlowski LL (2015) Undiagnosed metabolic dysfunction and sudden infant death syndrome – a case-control study. Paediatr Perinat Epidemiol 29:151–155

    Article  PubMed  Google Scholar 

  • The metabolic autopsy: postmortem screening in cases of sudden, unexpected death. Mayo Reference Services Communiqué. 2003. Available at http://www.mayomedicallaboratories.com/mediax/articles/communique/2003/mc2831-0903.pdf.

  • Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR (eds) Newborn screening: toward a uniform screening panel and system [Executive summary]. Genet Med 2006;8(Suppl):1S–11S.

    Google Scholar 

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Correspondence to Piero Rinaldo MD, PhD .

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Rinaldo, P. (2017). Postmortem Investigations. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_44

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  • DOI: https://doi.org/10.1007/978-3-662-49410-3_44

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49408-0

  • Online ISBN: 978-3-662-49410-3

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