Metabolic Autopsy May Explain Some SIDS Cases

Specialized interpretation was used to evaluate profiles for disorders of fatty acid, organic acid, and amino acid metabolism. The analyses were compared with the analyses of bile specimens, newborn blood specimens, and specimens obtained from older infants at risk for metabolic disorders.

Results on 66 specimens suggested diagnoses of metabolic disorders. The researchers, from Neo Gen Screening (Bridgeville, PA, USA; www.neogenscreening), point out that without postmorten examination with MS/MS, the deaths from inherited metabolic disorders would have remained undiagnosed. This examination would not only provide a family with a plausible cause of their infant's death but could also serve to prevent morbidity and mortality in asymptomatic but affected siblings. Therefore, the researchers urge medical examiners and pathologists to consider an MS/MS analysis in all cases of infant deaths that are unexpected or of unknown cause.




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