<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

Alkaptonuria and Ochronosis – Experience From Slovakia

Natonal Insttute of Rheumatc Diseases, Piešt'any, Slovakia

Center for Molecular Medicine, Insttute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia

European Pharmaceutical Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Alkaptonuria and Ochronosis \u2013 Experience From Slovakia"}

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a...

Alkaptonuria and Ochronosis – Experience From Slovakia

Article Category: Original research article

Publié en ligne: 30 août 2014

Pages: -

Reçu: 14 févr. 2014

Accepté: 02 avr. 2014

DOI: https://doi.org/10.2478/afpuc-2014-0001

Mots clés
alkaptonuria, ochronosis, homogentisic acid in urine

© Acta Facultatis Pharmaceuticae Universitatis Comenianae

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Alkaptonuria and Ochronosis – Experience From Slovakia

Article Category: Original research article

Publié en ligne: 30 août 2014

Pages: -

Reçu: 14 févr. 2014

Accepté: 02 avr. 2014

DOI: https://doi.org/10.2478/afpuc-2014-0001

Mots clésalkaptonuria, ochronosis, homogentisic acid in urine

© Acta Facultatis Pharmaceuticae Universitatis Comenianae

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
alkaptonuria, ochronosis, homogentisic acid in urine