OBJECTIVES: to describe clinical aspects of hyper-phenylalaninemia in patients followed up on the Reference Service for Neonatal Screening (SRTN) in the state of Bahia. METHODS: cross-sectional study that enrolled all patients living in the state of Bahia and followed up on the SRTN who had a definite diagnosis of hyper-phenylalaninemia prior to September, 2005. That population was made up of 46 families, with 51 patients. The analysis of data was descriptive, using measures of central tendency and dispersion. RESULTS: a discrete predominance of females was found (52.9%). Most patients (78,4%) were diagnosed on neonatal screening, thus receiving early treatment. Consanguinity was registered in 32.6% of the families. The average age at the adoption of therapy was 56.6 37.8 days on the patients diagnosed on neonatal screening and 7.1 years among those with a late diagnosis. CONCLUSIONS: the relevance of this study to public health lies upon the fact that it describes clinical features of a group of patients with a disease included on the National Neonatal Screening Program. Among clinical data, we highlight the average age at the adoption of therapy, which is higher than the recommended by medical literature, stressing the need of reinforcing the importance of early diagnosis.
Phenylketonurias; Metabolism; inborn errors; Mental retardation; Neonatal screening
