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Chace DH et al; Clin Chem 2001; 47: 1166-82
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
(Editorial:The metabolic autopsy comes of age. Bennet MJ, Rinaldo P. Clin Chem 2001; 47: 1145-6)

Inherited metabolic disorders are of interest to the clinical biochemists because of their biochemical origin and the fact that biochemical investigations may often be the only practical way of diagnosing these conditions, failing specific clinical and histo-pathological findings.

Further support for a biochemical approach to diagnosing these conditions are now presented by Chace et al. They have investigated blood and bile samples from more than 7000 neonates and infants who died suddenly without any obvious cause as found at a postmortem examination. Control samples from healthy neonates and older children and subjects at risk for metabolic disorders were also analysed. The investigators could identify 12 inherited defects in fatty acid, organic acid and amino acid metabolism in 66 of the 7058 cases of sudden death. This is a significant step forward in providing a specific biochemical diagnosis in cases of sudden death in infants and children as many of the diagnosed conditions are treatable and family investigations may prevent additional cases of sudden death. The investigations carried out by Chace et al; also clarified that suspected child abuse was not the reason for death in two of the cases.