{"title":"Alkaptonuria and Ochronosis – Experience From Slovakia","authors":"J. Rovenský, T. Urbánek, R. Imrich","doi":"10.2478/afpuc-2014-0001","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"21 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/afpuc-2014-0001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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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