Contribution of selected metabolic diseases to early childhood deaths--Virginia, 1996-2001

Sudden infant death syndrome (SIDS), or the death of an infant aged <1 year that remains unexplained after a thorough investigation, is the third most common cause of death among infants in the United States. Sudden, unexplained deaths also occur among children aged >/=1 year; however, the number of these deaths is not well documented. Certain cases of SIDS and sudden unexplained death beyond infancy might be attributable to complications of unrecognized metabolic diseases. Tandem mass spectrometry (tandem MS) can be used to screen for several of these disorders. Despite the low prevalence of these diseases, newborn screening for these disorders has been found to compare favorably with the cost of other screening programs. However, the contribution of these diseases to early childhood deaths is not well understood. To determine the proportion of sudden, unexpected early childhood deaths associated with selected metabolic diseases, CDC, the Office of the Chief Medical Examiner (ME) in Virginia, and a private laboratory conducted a population- based study. This report summarizes the results of the study, which indicate that 1% of children had a positive postmortem metabolic screen using tandem MS. Of the eight children with positive screening tests, seven might have had improved outcomes had they been identified and treated during the newborn period. The use of tandem MS in newborn screening programs could offer an opportunity to prevent early childhood mortality.