Alkaptonuria

The journal BMC Medical Informatics and Decision Making has published an article about аlkaptonuria. Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. The full-text article you can find here.