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Alkaptonuria and Ochronosis

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Gerontorheumatology

Abstract

Alkaptonuria (AKU) is an inherited disorder of metabolism of aromatic amino acids phenylalanine and tyrosine that is caused due to the lack of activity of the enzyme homogentisate 1,2-dioxygenase (HGD). The homogentisic acid is not metabolised; it accumulates in the body and is excreted into urine.

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Authors and Affiliations

  1. National Institute of Rheumatic Diseases, Piestany, Slovakia

    Jozef Rovenský, Tibor Urbánek & Vladimir Bošák

  2. Institute for Clinical and Translational Research BMC, Slovak Academy of Sciences, Bratislava, Slovak Republic

    Richard Imrich

Authors
  1. Jozef Rovenský
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  2. Richard Imrich
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  3. Tibor Urbánek
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  4. Vladimir Bošák
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Correspondence to Jozef Rovenský .

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Editors and Affiliations

  1. National Institute of Rheumatic Diseases, Piešťany, Slovakia

    Jozef Rovenský

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Rovenský, J., Imrich, R., Urbánek, T., Bošák, V. (2017). Alkaptonuria and Ochronosis. In: Rovenský, J. (eds) Gerontorheumatology. Springer, Cham. https://doi.org/10.1007/978-3-319-31169-2_19

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  • DOI: https://doi.org/10.1007/978-3-319-31169-2_19

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