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Disorders of Tyrosine Metabolism

  • Chapter
Inborn Metabolic Diseases

Abstract

Five inherited disorders of tyrosine metabolism are known, 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 blisterous lesions of the palms and soles. Tyrosinaemia type III may be asymptomatic or associated with mental retardation. Hawkinsinuria may be asymptomatic or presents 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; the deficiency of tyrosine hydroxylase, the first enzyme in the synthesis of dopamine from tyrosine; and the deficiency of aromatic L-amino acid decarboxylase, which also affects tryptophan metabolism. The latter two disorders are covered in ▸ Chap. 29.

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Author information

Authors and Affiliations

  1. Department of Clinical Inherited Metabolic Disorders, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK

    Anupam Chakrapani

  2. Department of Clinical Chemistry, Sahlgrenska University Hospital, 41345, Gothenburg, Sweden

    Elisabeth Holme

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  1. Anupam Chakrapani
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  2. Elisabeth Holme
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Editor information

Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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Chakrapani, A., Holme, E. (2006). Disorders of Tyrosine Metabolism. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_18

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_18

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