LEVANTAMENTO EPIDEMIOLÓGICO DA FENILCETONÚRIA NO ESTADO DE GOIÁS

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 Goias Reference Service were analyzed. The analysis showed that the incidence of this disease in Goias 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%.