Phenylketonuria (PKU) represents a heterogeneous group of disorders with autosomal recessive inheritance. PKU, or hyperphenylalaninemia, is caused by a deficiency of the phenylalanine hydroxylating system. The phenylalanine hydroxylating system consists of two essential components: phenylalanine hydroxylase and coenzyme tetrahydrobiopterin (Fig. 30.1). PKU is in most patients caused by deficiency of phenylalanine hydroxylase, and in a minority of patients by deficiency of tetrahydrobiopterin.


White Matter White Matter Change White Matter Abnormality Periventricular White Matter Phenylalanine Hydroxylase 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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