Epidemiologic view of phenylketonuria (PKU) in Latinamerica

Abstract

Latin America is a region conformed by 20 countries characterized by a wide diversity among them, which can be demonstrated through several indicators such as rural population percentage, ethnicity, public health budget allocated and infant mortality rate; all these factors influence the extent of activities related to newborn screening. Phenylketonuria newborn screening programs vary among different Latin American countries; each one has its own history; quality standards, newborn population covered and the mandatory legislation of newborn screening. Epidemiological knowledge on phenylketonuria of this region is imprecise due to the lack of national statistic registries, thus avoiding an objective assessment of population coverage and disease incidence; therefore available data is obtained from isolated observations. Analysis of phenylketonuria and hyperphenylalaninemia based on available information of several Latin American newborn screening programs shows mean incidence values of 1: 23,518 and 1: 20,759 respectively; however, individual analysis of incidence by country indicates that phenylketonuria ranges between 1:12,473 and 1:161,748 live newborns.

Keywords

• Tamiz neonatal
• fenilcetonuria
• hiperfenilalaninemia
• registros estadísticos
• análisis de incidencia