Abstract
In Brazil, newborn screening for PKU started in 1976, using filter paper impregnated with blood samples drop colected from the newborns' heels. First done in São Paulo,the program progressively extended to other Brazilian cities.
Blood samples (PHE)levels were determined by spectrofluorometry. Whenever the PHE levels were found to be higher than 4mg/dl, the child was recalled for a repeat test. PKU(phenylketonuria) and hyperphenylalaninemia(PHE>10mg/dl) cases were followed-up by a multidisciplinar team. From June 1976 up to July 1992, 2, 876, 548 newborns were screened:169 (1:17,020) had PKU;10 had hyperphenylalaninemia (PHE=10-14,9mg/dl)about 0,1% had transitory hyperphenylalaninemia (PH»4-10mg/dl); there was one case of dihydrobiopterin deficiency and one case of PKU with congenital hypothyroidism(the only case in the literature so far, published in Pediatr.Res.1986, 15:176). Due to the obtained results, newborn screening for PKU and congenital hypothyroidism (CH) became obligatory by law in the State of São Paulo in 1983, expanded to all the Southern states of Brazil and finally ended up in a Federal Law in October 1990.
Illiteracy of the patients' relatives keeps part of them from showing for repeat tests. Often dietary directions have to be given by means of drawings. On the whole, about 1/3 of the cases with increased Phe blood levels fail to come to APAE-Saão Paulo for final diagnosis and -if necessary- further follow-up.
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Schmidt, B., Grossonl, A., Fisberg, M. et al. NEWBORN SCREENING FOR PKU IN SÃO PAULO — BRASIL -.. Pediatr Res 33, 661 (1993). https://doi.org/10.1203/00006450-199306000-00037
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DOI: https://doi.org/10.1203/00006450-199306000-00037