Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia Clinical and demographic aspects of phenylketonuria in Bahia state, Brazil

Objective: To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. Method: Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. Results: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91% of them. Among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34% had symptoms at the first medical consultation, none of them with delayed neurodevelopment. Consanguinity was reported in 32% of patients. Affected individuals were predominantly classified as white (63%). The parents had low education and