Alkaptonuria and Ochronosis – Experience From Slovakia

J. Rovenský 1 , T. Urbánek 1  and R. Imrich 2
  • 1 Natonal Insttute of Rheumatc Diseases, Piešt'any, Slovakia
  • 2 Center for Molecular Medicine, Insttute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia

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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