Early detection of alkaptonuria

Abstract

Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of 10 year old boy is reported who was brought to this clinic with the presenting complaint of bluish discoloration of sclerae. This discoloration led to eliciting positive history of dark urine off and on. Further investigations confirmed alkaptonuria.