A CASE OF OCHRONOSIS
Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder of tyrosine metabolism due to deficiency of the enzyme homogentisic acid dioxygenase. The description of alkaptonuria by Garrod in 1902 led to the concept of a single enzyme deficiency resulting in lifelong disease. The elevated levels of homogentisic acid (HGA) polymerises and gets de posited in connective tissues leading on to ochronosis. The usual presentation is with degenerative joint disease and hyperpigmentation of skin. We report a case of Alkaptonuria with Chronic kidney disease leading onto Secondary Hypertension and Spontaneous tendon ruptures in a young female for its rarity.
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