A CASE REPORT OF ALKAPTONURIA

Alkaptonuria is a one of the inborn errors of metabolism characterized by triad of homogentisic aciduria, arthritis and ochronosis. It is due to the defect in the homogentisic acid oxidase gene located on human chromosome 3q21-q23, results in a defect in the metabolism of homogentisic acid. The diagnosis was made with history of darkening of urine on prolonged standing and positive ferric chloride test. Here we report a case of alkaptonuria with lumbar spine involvement.