Levantamento epidemiológico de fenilcetonúria no estado de Goiás
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Data
2010
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Resumo
Phenylketonuria is a genetic disease resultant of deficiencies in
phenylalanine metabolism. The accumulation of the phenylalanine in
blood permits its diagnosis through Newborn Screening test. This
study was conducted in a transversal descriptive character. Results
obtained in the period from 2004 to 2007, concerning 325,308 tests
deposited in a data bank from Goiás Reference Service were analyzed.
The analysis showed that the incidence of this disease in Goiás is in the
range of 1 case in 29,575 newborn, with prevalence of female (in spite of
absence of sex correlation of this disease). The higher incidence was
observed in Aparecida de Gioiânia with 27.3%, followed by Goiânia
with 18.2%. The rate of adherence to treatment was 52%.
Descrição
Palavras-chave
Fenilcetonúrias, Triagem neonatal, Fenilalanina hidroxilase, Phenylketonuria, Phenylalanine hydroxylase, Neonatal screening
Citação
LOPES, Flavio Marques et al. Levantamento epidemiológico de fenilcetonúria no estado de Goiás. Ensaios e Ciência: ciências biológicas, agrárias e da saúde, Londrina, v. 14, n. 2, p. 61-70, 2010.