Issue: 2009 > January > review

Adult issues in phenylketonuria

M.P.A. Hoeks, M. den Heijer, M.C.H. Janssen


Phenylketonuria (PKU) is a classical example of an
inherited metabolic disease, in which mental retardation
can be prevented successfully by using a diet. However,
in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide
guidelines for the clinician to understand and manage
PKU in adults.