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Inborn Metabolic Diseases pp 265–275Cite as

Disorders of Tyrosine Metabolism

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Zusammenfassung

Five inherited disorders of tyrosine metabolism are known. Hereditary tyrosinaemia type I is characterised by progressive liver disease and renal tubular dysfunction with rickets. Hereditary tyrosinaemia type II (Richner-Hanhart syndrome) presents with keratitis and blistering lesions of the palms and soles and neurological complications. Tyrosinaemia type III may be asymptomatic or associated with mental retardation. Hawkinsinuria may be asymptomatic or present with failure to thrive and metabolic acidosis in infancy. In alkaptonuria, symptoms of osteoarthritis usually appear in adulthood. Other inborn errors of tyrosine metabolism include oculocutaneous albinism caused by a deficiency of melanocyte-specific tyrosinase, converting tyrosine into DOPA-quinone; deficiency of tyrosine hydroxylase, the first enzyme in the synthesis of dopamine from tyrosine; and deficiency of aromatic L-amino acid decarboxylase, which also affects tryptophan metabolism.

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Author information

Authors and Affiliations

  1. Consultant in Paediatric Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK

    Anupam Chakrapani

  2. Inherited Metabolic Diseases, Great Ormond Street Hospital, Great Ormond Street, WC1N 3JH, London, UK

    Paul Gissen

  3. Gastroenterology/Hepatology/Nutrition, Children´s Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, PA 15224, Pittsburgh, UK

    Patrick McKiernan

Authors
  1. Anupam Chakrapani
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  2. Paul Gissen
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  3. Patrick McKiernan
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Corresponding authors

Correspondence to Anupam Chakrapani , Paul Gissen or Patrick McKiernan .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Chakrapani, A., Gissen, P., McKiernan, P. (2016). Disorders of Tyrosine Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_17

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

  • Online ISBN: 978-3-662-49771-5

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