Case Report of alkaptonuria

Abstract

Alkaptonuria or ochronosis a rare autosomal recessive inborn error of metabolism is due to lack of an enzyme called Homogentisic acid oxidase (HGO). This results in accumulation of Homogentisic acid (HA) in the body, the oxidized polymers of which deposit in tissues rick in collagen leading to bluish - black pigmentation, early and severe degenerative changes in large joints and clacification of the intervertebral discs and formation of renal and prostatic calculi and rarely renal failure and degenerative cardiac valvular disease. A middle aged man suffering form Alkaptonuria is reported who possibly has two other family members suffering from the same disease.