Postmortem Investigations

Chapter

Key Facts

  • All cases of sudden and unexpected death in childhood should be evaluated for a possible underlying metabolic disorder

  • A history of “normal” newborn screening for metabolic disorders is not a sufficient reason to decline post-mortem evaluation

  • Most important specimens to collect at autopsy are blood and bile, spotted on filter paper

Keywords

Newborn Screening Unexpected Death Skin Specimen Sudden Unexpected Death Metabolic Decompensation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Key References

  1. Bennett MJ, Rinaldo P (2001) The metabolic autopsy comes of age. Clin Chem 47:1145–1146PubMedGoogle Scholar
  2. Boles RG, Buck EA, Blitzer MG et al (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 132:924–933PubMedCrossRefGoogle Scholar
  3. Boles RG, Martin SK, Blitzer MG et al (1994) Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of post-mortem liver. Hum Pathol 25:735–741PubMedCrossRefGoogle Scholar
  4. Chace DH, DiPerna JC, Mitchell BL et al (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: 1166–1182PubMedGoogle Scholar
  5. Dott M, Chace D, Fierro M et al (2006) Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study. Am J Med Genet A 140:837–842PubMedGoogle Scholar
  6. Gray RGF, Ryan D, Green A (1995) The cryopreservation of skin biopsies — a technique for reducing workload in a cell culture laboratory. Ann Clin Biochem 32:190–192PubMedGoogle Scholar
  7. National Newborn Screening Report — 1997, National Newborn Screening and Genetics Resource Center (NNSGRC),Austin, TX, pp. 31–32. http://www2.uthscsa.edu/nnsis/ Accessed May 2001
  8. Rashed MS, Ozand PT, Bennett MJ et al (1995) Diagnosis of inborn errors of metabolism in sudden death cases by acyl-carnitine analysis of postmortem bile. Clin Chem 41: 1109–1114PubMedGoogle Scholar
  9. 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, MO, pp 2207–2247Google Scholar
  10. Rinaldo P, Matern D, Bennett MJ (2002) Fatty acid oxidation disorders. Ann Rev Physiol 64(16): 1–26Google Scholar
  11. The metabolic autopsy: postmortem screening in cases of sudden, unexpected death. Mayo Reference Services Communiqué. http://mayomedicallaboratories.com/articles/communique/archive.html. Accessed Sep 2003
  12. Watson MS, Mann M Y, Lloyd-Puryear MA, Rinaldo P, Howell RR, (eds) (2006) Newborn screening: toward a uniform screening panel and system (Executive summary). Genet Med 8(Supplement):1S–11SGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  1. 1.Biochemical Genetics LaboratoryMayo Clinic College of MedicineRochesterUSA

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