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01.12.2009 | Online Publication

Galactosaemia in a Brazilian population: High incidence and cost–benefit analysis

verfasst von: J. S. Camelo Jr, M. I. Machado Fernandes, L. M. Zanini Maciel, C. A. Scrideli, J. L. Ferreira Santos, A. S. Camargo Jr, C. Souza Passador, P. Carvalho Leite, D. Ruffato Resende, L. Oliveira de Souza, R. Giugliani, S. Moysés Jorge

Erschienen in: Journal of Inherited Metabolic Disease | Sonderheft 1/2009

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Summary

Objectives:

To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach.

Methods:

An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10% of the births in São Paulo in one year and positive cases were confirmed by the activity of galactose-1-phosphate uridyltransferase (GALT). Detected and referred cases were genotyped using enzyme restriction studies for Q188R, N314D and S135L mutations of the GALT gene. The economic analysis was determined by calculating the B/C ratio and by analysis of sensitivity as a function of the incidence of the disease detected and the variation of the interest rate in the economy.

Results:

59 953 newborns were screened for TG, with 3 cases of galactosaemia being identified (0.26% false positives), corresponding to a frequency of 1:19 984 liveborns (95% confidence interval: 1:7494 to 1:59 953). One classical case and one Duarte 2 variant referred to as a selective approach were confirmed. With an incidence of 1:19 984, the B/C ratio was 1.04 for the 11.75% interest rate in effect in Brazil, with values already decapitalized. With a maximum possible incidence of 1:7494, the B/C ratio was 2.79.

Discussion:

There is an economic advantage in introducing neonatal screening for galactosaemia in the national neonatal screening programme. This advantage could increase with a reduction of the current interest rates in the economy.

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Titel: Galactosaemia in a Brazilian population: High incidence and cost–benefit analysis
verfasst von: J. S. Camelo Jr
M. I. Machado Fernandes
L. M. Zanini Maciel
C. A. Scrideli
J. L. Ferreira Santos
A. S. Camargo Jr
C. Souza Passador
P. Carvalho Leite
D. Ruffato Resende
L. Oliveira de Souza
R. Giugliani
S. Moysés Jorge
Publikationsdatum: 01.12.2009
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe Sonderheft 1/2009
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-1112-1

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