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Hyperphenylalaninaemia

  • Chapter
Inborn Metabolic Diseases

Abstract

Mutations within the gene for the hepatic enzyme phenylalanine hydroxylase (PAH) and those involving enzymes of pterin metabolism are associated with hyperphenylalaninaemia (HPA). Phenylketonuria (PKU) is caused by a severe deficiency in PAH activity and if left untreated leads to permanent central nervous system damage. Dietary restriction of phenylalanine (PHE) along with amino acid, vitamin and mineral supplements, started in the first weeks of life and continued through childhood, is an effective treatment and allows for normal cognitive development.

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Authors and Affiliations

  1. Biochemical Genetics Unit Genetic Medicine Manchester Academic Health Science Centre, University of Manchester Central Manchester University Hospitals NHS Foundation Trust St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

  2. Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, Queen Square, WC1N3BG, London, UK

    Robin H. Lachmann

  3. University Children’s Hospital, Ruprecht-Karls University, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany

    Peter Burgard

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  1. John H. Walter
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  2. Robin H. Lachmann
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  3. Peter Burgard
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Walter, J., Lachmann, R., Burgard, P. (2012). Hyperphenylalaninaemia. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_17

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_17

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