Biomaterial Database

Inborn errors of amino acid metabolism. The best strategy for their diagnosis. 1992

I Durand-Zaleski, and J M Saudubray, and P P Kamoun, and C Blum-Boisgard

Hôpital Henri Mondor.

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.

UI	MeSH Term	Description	Entries
D012017	Referral and Consultation	The practice of sending a patient to another program or practitioner for services or advice which the referring source is not prepared to provide.	Consultation,Gatekeepers, Health Service,Hospital Referral,Second Opinion,Consultation and Referral,Health Service Gatekeepers,Hospital Referrals,Referral,Referral, Hospital,Referrals, Hospital,Consultations,Gatekeeper, Health Service,Health Service Gatekeeper,Opinion, Second,Opinions, Second,Referrals,Second Opinions
D002852	Chromatography, Ion Exchange	Separation technique in which the stationary phase consists of ion exchange resins. The resins contain loosely held small ions that easily exchange places with other small ions of like charge present in solutions washed over the resins.	Chromatography, Ion-Exchange,Ion-Exchange Chromatography,Chromatographies, Ion Exchange,Chromatographies, Ion-Exchange,Ion Exchange Chromatographies,Ion Exchange Chromatography,Ion-Exchange Chromatographies
D002855	Chromatography, Thin Layer	Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)	Chromatography, Thin-Layer,Thin Layer Chromatography,Chromatographies, Thin Layer,Chromatographies, Thin-Layer,Thin Layer Chromatographies,Thin-Layer Chromatographies,Thin-Layer Chromatography
D003362	Cost-Benefit Analysis	A method of comparing the cost of a program with its expected benefits in dollars (or other currency). The benefit-to-cost ratio is a measure of total return expected per unit of money spent. This analysis generally excludes consideration of factors that are not measured ultimately in economic terms. In contrast a cost effectiveness in general compares cost with qualitative outcomes.	Cost and Benefit,Cost-Benefit Data,Benefits and Costs,Cost Benefit,Cost Benefit Analysis,Cost-Utility Analysis,Costs and Benefits,Economic Evaluation,Marginal Analysis,Analyses, Cost Benefit,Analysis, Cost Benefit,Analysis, Cost-Benefit,Analysis, Cost-Utility,Analysis, Marginal,Benefit and Cost,Cost Benefit Analyses,Cost Benefit Data,Cost Utility Analysis,Cost-Benefit Analyses,Cost-Utility Analyses,Data, Cost-Benefit,Economic Evaluations,Evaluation, Economic,Marginal Analyses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D013673	Technology Assessment, Biomedical	Evaluation of biomedical technology in relation to cost, efficacy, utilization, etc., and its future impact on social, ethical, and legal systems.	Assessment, Biomedical Technology,Assessment, Technology,Biomedical Technology Assessment,Technology Assessment,Technology Assessment, Health,Assessment, Health Technology,Assessments, Biomedical Technology,Assessments, Health Technology,Assessments, Technology,Biomedical Technology Assessments,Health Technology Assessment,Health Technology Assessments,Technology Assessments,Technology Assessments, Biomedical,Technology Assessments, Health