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European Pharmaceutical Journal

Acta Facultatis Pharmaceuticae Universitatis Comenianae (formerly)

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2453-6725
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Alkaptonuria and Ochronosis – Experience From Slovakia

J. Rovenský / T. Urbánek / R. Imrich
  • Center for Molecular Medicine, Insttute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2014-08-30 | DOI: https://doi.org/10.2478/afpuc-2014-0001

Abstract

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

Keywords: alkaptonuria; ochronosis; homogentisic acid in urine

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About the article

Received: 2014-02-14

Accepted: 2014-04-02

Published Online: 2014-08-30


Citation Information: Acta Facultatis Pharmaceuticae Universitatis Comenianae, ISSN (Online) 1338-6786, DOI: https://doi.org/10.2478/afpuc-2014-0001.

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