Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study

American Journal of Medical Genetics. Part a
Mary DottSonja A Rasmussen

Abstract

Investigators have reported that certain metabolic disorders (fatty acid oxidation (FAO) disorders and organic acidemias) contribute to unexpected early childhood deaths. We estimated the contribution of these metabolic disorders to a population-based sample of unexpected early childhood deaths. The study population included children less than 3 years of age who died during 1996-2001 and whose deaths were investigated by the Virginia Office of the Chief Medical Examiner (ME). Dried post-mortem blood on filter paper was sent to a reference laboratory for metabolic screening by tandem mass spectrometry. When molecular DNA analysis was available to identify known gene mutations, positive screens were confirmed. If molecular DNA analysis for a suspected disorder was not available, tandem mass spectrometry was performed on newborn blood spots when available. If DNA analysis was not available and newborn blood spots could not be obtained, an independent expert biochemical geneticist confirmed the post-mortem interpretation. We obtained screening results for 793 (88%) of 904 children examined. Eight children had a positive screen for FAO disorders or organic acidemias. One child would not have benefited from identification in the newb...Continue Reading

References

Jan 1, 1992·Archives of Disease in Childhood·E H Touma, C Charpentier
May 1, 1994·Archives of Disease in Childhood·B WilckenM Silink
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Apr 20, 1999·Archives of Disease in Childhood·C J WilsonJ V Leonard
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Nov 20, 2003·JAMA : the Journal of the American Medical Association·Susan E WaisbrenHarvey L Levy

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Citations

Apr 7, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa A ProsserJames M Perrin
Nov 14, 2008·European Journal of Pediatrics·Marine Jequier GygaxLuisa Bonafé
Mar 8, 2013·Seminars in Pediatric Neurology·Casey M RandDebra E Weese-Mayer
Nov 27, 2010·Paediatric Respiratory Reviews·Aurore Côté
Dec 1, 2006·Journal of Mass Spectrometry : JMS
Jul 16, 2010·Angewandte Chemie·William J GriffithsHans-Peter Deigner
Oct 30, 2015·Annals of Pediatric Endocrinology & Metabolism·Hye-Ran Yoon
Dec 20, 2018·Frontiers in Immunology·Christopher J CollinsSi Houn Hahn

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