Chilean model for long-term follow-up of phenylketonuria (PKU)

Abstract

Chilean newborn screening program began in 1984 through of a covenant between the National Ministry of Health and the Chilean University through its Institute of Nutrition and Food Technology (INTA) with the aim of implementing a pilot study for neonatal detection of phenylketonuria (PKU) in Santiago’s central area. In 1989 a program for neonatal diagnosis of PKU and congenital hypothyroidism (HC) was initiated by INTA along with Santiago´s occidental health ministry rural area, which covered 20% of newborn population. PKU and HC had an incidence of 1:14,640 and 1:2000 living newborns respectively. These findings allowed the establishment of a favorable cost/benefit ratio which validated the implementation of a program with National character. In 1992 the Chilean Ministry of Health ruled the initiation of PKU and HC newborn screening program and by 1998 the coverage across the country was achieved. INTA is the National Reference Center for confirmation and long term treatment for PKU and HC patients. A follow-up program consists of medical, nutritional, neurological and psychological outcome evaluations as well as periodic biochemical testing in order to guarantee normal patient growth and development. To date 184 children have been diagnosed with classic or moderate PKU, all of them follow a strict monitoring program.

Keywords

• Fenilcetonuria
• hipotiroidismo congénito
• pesquiza neonatal
• centro de referencia nacional