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Abstract

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.

Keywords

White Matter White Matter Change White Matter Abnormality Periventricular White Matter Phenylalanine Hydroxylase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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