Alkaptonuria and Ochronosis – Experience From Slovakia

J. Rovenský; T. Urbánek; R. Imrich

doi:10.2478/afpuc-2014-0001

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Alkaptonuria and Ochronosis – Experience From Slovakia

European Pharmaceutical Journal

Volume 61 (2014): Issue 1 (August 2014)

By: J. Rovenský, T. Urbánek and R. Imrich

Open Access

|Aug 2014

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.

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Articles in this issue

DOI: https://doi.org/10.2478/afpuc-2014-0001 | Journal eISSN: 2453-6725

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Language: English

Submitted on: Feb 14, 2014

Accepted on: Apr 2, 2014

Published on: Aug 30, 2014

Published by: Comenius University in Bratislava, Faculty of Pharmacy

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

alkaptonuria,

ochronosis,

homogentisic acid in urine

Related subjects:

Pharmacy,

Pharmacy, other

© 2014 J. Rovenský, T. Urbánek, R. Imrich, published by Comenius University in Bratislava, Faculty of Pharmacy
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 61 (2014): Issue 1 (August 2014)