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Inborn Metabolic Diseases pp 265–276Cite as

Disorders of Tyrosine Metabolism

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Abstract

Five inherited disorders of tyrosine metabolism are known, which are depicted in ◘ Fig. 18.1. 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. 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.

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Author information

Authors and Affiliations

  1. Department of Inherited Metabolic Disorders, Birmingham Children’s Hospital, Steelhouse Lane, B46NH, Birmingham, UK

    Anupam Chakrapani

  2. Department of Inherited Metabolic Diseases, Birmingham Children’s Hospital, Steelhouse Lane, B46NH, Birmingham, UK

    Paul Gissen

  3. Liver Unit, Birmingham Children’s Hospital, Steelhouse Lane, B46NH, Birmingham, UK

    Patrick McKiernan

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  1. Anupam Chakrapani
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  2. Paul Gissen
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  3. Patrick McKiernan
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Editor information

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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Chakrapani, A., Gissen, P., McKiernan, P. (2012). Disorders of Tyrosine Metabolism. 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_18

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_18

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