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Alkaptonuria (AKU) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. AKU represents an autosomal recessive condition caused by 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 homogentisc acid called alkapton, impregnates bradotrophic tissues such as cartilage. A clinical trial aimed at proving efficacy of nitisinone in AKU is currently underway.
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Rovenský et al. (2016) studied this question.
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