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Disorders of Tyrosine Metabolism

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Inborn Metabolic Diseases

Abstract

Six 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. Maleylacetoacetate isomerase deficiency is associated with asymptomatic mild hypersuccinylacetonaemia. 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. Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London, UK

    Anupam Chakrapani

  2. Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, UK

    Paul Gissen

  3. Gastroenterology/Hepatology/Nutrition, UPMC Children’s Hospital of Pittsburgh, PA, USA

    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 author

Correspondence to Anupam Chakrapani .

Editor information

Editors and Affiliations

  1. Paris, France

    Jean-Marie Saudubray

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

    Matthias R. Baumgartner

  3. Servicio de Neurologia, Hospital Sant Joan de Deu, Barcelona, Barcelona, Spain

    Ángeles García-Cazorla

  4. Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK

    John Walter

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Chakrapani, A., Gissen, P., McKiernan, P. (2022). Disorders of Tyrosine Metabolism. In: Saudubray, JM., Baumgartner, M.R., García-Cazorla, Á., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63123-2_17

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  • DOI: https://doi.org/10.1007/978-3-662-63123-2_17

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