The metabolic investigation of sudden infant death

Ann Clin Biochem 2004;41:282-293
© 2004 Royal Society of Medicine

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Review Article

Simon E Olpin

Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, S10 2TH, UK

Inherited metabolic disorders account for a small but significantnumber of sudden unexplained deaths in neonates, infants andoccasionally older children. In particular, inherited disordersof fatty acid oxidation may closely mimic sudden infant deathsyndrome. Post-mortem investigations offer the final opportunityto establish a diagnosis. Such diagnoses are of great importanceto the families concerned and provide the opportunity for geneticcounselling and antenatal diagnosis. Current advances in technology,particularly in the case of electrospray ionization tandem massspectrometry, have revolutionized the investigation of metabolicdisease at post-mortem, facilitating the identification of awide range of metabolic diseases in tiny samples of blood, plasmaand bile. Such analyses may provide vital clues to diagnosis,usually in the form of acylcarnitine profiles. Accurate diagnosisrelies on the timely collection of appropriate samples and thesubsequent selection of informative testing. In order to maximizethe chances of a diagnosis, a collaborative approach betweenthe various disciplines is vital. A brief description of themore frequently encountered inherited disorders, collectionand processing of appropriate samples and available investigationsthat may lead to accurate diagnosis are clearly described.

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