Phenylketonuria (PKU) in adults

Abstract

Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic Diseases at the Hospital Ramon y Cajal; the use of sapropterin in adults is included.

Keywords

• Fenilcetonuria
• PKU en adultos
• sapropterina
• errores innatos del metabolismo