ALKAPTONURIC-OCHRONOSIS - REPORT OF 2 AFFECTED BROTHERS

Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because o f the deficient activity of the enzyme homogentisic acid oxidase, homo gentisic acid accumulates in plasma, is deposited in various tissues a nd is excreted in large amounts in urine. Dark brown discoloration of urine on exposure to air or after addition of alkaline solution is cha racteristic. We describe two brothers with typical alkaptonuric ochron osis with dark urine, blue pigmentation of auricles and axillae, focal brown hyperpigmentation of sclerae, and anthropathy.