Alkaptonuria ​

Alkaptonuria is a congenital disorder caused by a deficiency of the enzyme homogentisate-1,2-dioxygenase (HGD), which catalyses the conversion of homogentisic acid (HGA) to maleylacetoacetate. As a consequence, there is an accumulation of HGA and its derivative benzoquinone-acetic acid in the body, which are toxic to several tissues like cartilage. The long-term consequences of AKU are joint problems, cardiac valve abnormalities, kidney stones and sometimes renal insufficiency