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Magnetic Resonance of Myelin, Myelination, and Myelin Disorders pp 192–200Cite as

Phenylketonuria

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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.

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Authors and Affiliations

  1. Department of Child Neurology, Free University Hospital, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands

    Marjo S. van der Knaap MD, PhD

  2. Department of Diagnostic Radiology, Free University Hospital, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands

    Jacob Valk MD, PhD

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  1. Marjo S. van der Knaap MD, PhD
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  2. Jacob Valk MD, PhD
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© 1995 Springer-Verlag Berlin Heidelberg

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van der Knaap, M.S., Valk, J. (1995). Phenylketonuria. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03078-3_30

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  • DOI: https://doi.org/10.1007/978-3-662-03078-3_30

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03080-6

  • Online ISBN: 978-3-662-03078-3

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