Hostname: page-component-cd9895bd7-jn8rn Total loading time: 0 Render date: 2024-12-25T04:47:01.287Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

1.Eddy, D. M.Selecting technologies for assessment. International Journal of Technology Assessment in Health Care, 1989, 5, 485–501.CrossRefGoogle ScholarPubMed
2.Grossman, R.A review of physician cost-containment strategies for laboratory testing. Medical Care, 1983, 21, 783–802.CrossRefGoogle ScholarPubMed
3.Grumet, G.Health care rationing through inconvenience. New England Journal of Medicine, 1989, 321, 607–11.CrossRefGoogle ScholarPubMed
4.Leaf, A.Cost-effectiveness as a criterion for medical coverage. New England Journal of Medicine, 1989, 321, 898–90.CrossRefGoogle Scholar
5.Parvy, P., Bardet, J., Rabier, D., et al. Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies. Clinica Chimica Acta, 1988, 176, 269–77.CrossRefGoogle ScholarPubMed
6.Pauker, S. G., & Kassirer, J. P.The threshold approach to clinical decision making. New England Journal of Medicine, 1980, 320, 1009–17.Google Scholar
7.Saudubray, J. M., Ogier, H., Bonnefont, J. P., et al. Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey. Journal of Inherited Metabolic Diseases, 1989, 12(suppl. 1), 25–41.CrossRefGoogle ScholarPubMed
8.Scriver, C. R., Beaudet, A. L., Sly, W. S., & Vallée, D.The metabolic basis of inherited diseases. New York; McGraw-Hill, 1989.Google Scholar
9.Stanbury, J., Wyngaarden, J., Frederickson, D., et al. The metabolic basis of inherited disease. New York: McGraw-Hill, 1983.Google Scholar
10.Thompson, M.Benefit-cost analysis for program evaluation. London: Sage Publications, 1980.Google Scholar
11.Weinstein, M., & Statson, W.Foundations of cost-effectiveness analysis for health and medical practices. New England Journal of Medicine, 1977, 296, 716–21.CrossRefGoogle ScholarPubMed