Alkaptonuria and Ochronosis – Experience From Slovakia

J. Rovenský, T. Urbánek, R. Imrich
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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.
尿酸和老年痴呆——斯洛伐克的经验
摘要尿酸尿症是一种罕见的遗传性苯丙氨酸和酪氨酸代谢疾病。这是一种常染色体隐性遗传病,是由于参与酪氨酸降解的酶均质1,2-双加氧酶的缺陷引起的。结果,均质酸及其氧化物在血液中积累,并随尿液大量排出。均质酸的聚合物称为alkapton,它浸渍在营养组织中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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