Alkaptonuria: Case report and review of the literature.

Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis. It enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed and is also one of the conditions in the charter of group of inborn errors of metabolism. It is of interest to note that the disease was identified in 1500 BC in an ancient Egyptian mummy. The manifestations are urine that turns dark on standing and alkalinization due to excretion of excessive amounts of homogentisic acid, large joint arthritis and black ochronotic pigmentation of cartilage and collagenous tissue. This disease is unusually frequent in Slovakia 3 and the Dominican Republic. More than 126 patients have been reported from Czechoslovakia, 108 from Germany, and 90 from the United States. In countries of the Middle East, the disease was first reported from Lebanon in 1958 6 and from Sudan in 1965. Two adult patients, one Saudi and one Yemeni, have also been reported from Saudi Arabia. 8,9 We report the first Saudi child with presymptomatic alkaptonuria, who was diagnosed and treated at King Faisal Specialist Hospital and Research Centre, and we discuss the clinical aspect and management of this condition with a review of the relevant literature.