Abstract

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.