It has been pretty well established that individuals with inherited metabolic diseases constitute a minority of infants who die suddenly and unexpectedly and are frequently called SIDS. Various studies report from around 1% to 5% of the total depending on the population studied. Chace et al published their experience with blood spot acylcarnitine analysis in a large series of infants in the US (Clin Chem, 2001; 47, 1166-82.
The simplicity of this approach is in the use of a bloodspot which is readily available and easily transportable to any lab capable of performing acylcarnitine analysis by tandem mass spec. The caution is that not all inherited diseases will be detected and not all can be confirmed by molecular studies. I believe that this "Metabolic Autopsy" should be performed on all infants who die suddenly and unexpectedly. The benefit for those in whom a diagnosis is made cannot be underestimated as there is a clear sibling risk.
The diagnostic yield is probably as high as that obtained from toxicological investigation which is routinely performed on most autopsies.
Regards
Mike Bennett
>>> "H.Kleinveld" <[log in to unmask]> 01/31/02 03:41AM >>>
The paediatricians in our hospital are currently working on a SIDS-protocol. Finding an explanation for the sudden and unexpected death of an infant is of course their main objective. They have asked me for advice on biochemical testing. What tests make sense on a diseased infant? What are the expected biochemical changes after death (raised potassium, LDH, etc..)? Which fluids should be investigated (blood, liqour, vitreous humour, ....). To be honest I have my doubts about the usefulness of any test. Any comments, advice & existing protocols are welcome.
Thanks
Henne Kleinveld
Clinical Biochemist
Atrium Medical Center
Heerlen
The Netherlands
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