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Inborn Errors of Amino Acid Metabolism: The Best Strategy for Their Diagnosis

Published online by Cambridge University Press:  14 October 2009

Isabelle Durand-Zaleski ,
Jean-Marie Saudubray ,
Pierre-Prosper Kamoun  and
Claudine Blum-Boisgard
Isabelle Durand-Zaleski
Affiliation:
Hôpital Henri Mondor
Jean-Marie Saudubray
Affiliation:
Groupe Hospitalier Necker-Enfants Malades
Pierre-Prosper Kamoun
Affiliation:
Groupe Hospitalier Necker-Enfants Malades
Claudine Blum-Boisgard
Affiliation:
Service de I'Evaluation, Hôpitaux de Paris
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Abstract

We performed a cost-effectiveness analysis to evaluate whether a pediatrician who suspects an inherited disease of amino acid metabolism should refer the child to a specialist in inborn errors of amino acid metabolism or should prescribe the usual screening test, chromatography of amino acids. Actual hospital costs were used to value the referral, the tests, and the complications that occur when the diagnosis is not recognized. The percent of confirmed diagnoses was chosen as a measure of effectiveness. We conclude that it is more cost-effective for a pediatrician to refer the child to a specialist, that the best strategy in the absence of a referral is to prescribe thin-layer chromatography, and that the least cost-effective strategy is to perform ion-exchange chromatography immediately.

Type
General Essays
Information
International Journal of Technology Assessment in Health Care , Volume 8 , Issue 3 , Summer 1992 , pp. 471 - 478
Copyright
Copyright © Cambridge University Press 1992

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References

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