Triagem neonatal para fenilcetonúria e hiperfenilalaninemia permanente: a base de dados do IJC de 2010 a 2015 / Neonatal screening for phenylketonuria and permanent hyperphenylalaninemia: the database of IJC from 2010 to 2015

Resumen

Abstract

Phenylketonuria is one of the main causes of intellectual disability, and it has effective treatment, if the diagnosis and treatment is performed early and a lifelong follow-up. The objective of this study is to determine the prevalence of newborns with phenylketonuria identified by newborn screening.

 Methods

A cross-sectional study was carried out in which a data collection on newborn screening for phenylketonuria disease was carried out at the Newborn Screening Reference Service from January 1, 2010 to December 31, 2015.

Results

It was found in a 5-year period, an approximate prevalence of phenylketonuria of 1: 14,700 and permanent hyperphenylalaninemia is 1: 54,500 newborns.

By means of the obtained results, it is possible to demonstrate the relevance of the recollects and the follow-up in the first year of life and of altered samples, as well as the severity of the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damages in the gestational phase.

Conclusion

The prevalence of phenylketonuria and permanent hyperphenylalaninemia is high. Recollect and follow-up in the first year of life of the altered samples is extremely important, especially for the female population with phenylketonuria and permanent hyperphenylalaninemia, emphasizing the increase of possible brain damage in the gestational phase.