Rare Genetic Disease Diagnosed in Sumatran Orangutan at Indianapolis Zoo

Researchers from Indiana University School of Medicine have diagnosed a Sumatran orangutan at the Indianapolis Zoo with a rare genetic disease called Alkaptonuria, marking the first molecular confirmation of the disease in a primate other than humans. The six-year-old orangutan, named Mila, had a history of dark urine that turned brown upon standing since birth. Alkaptonuria is a rare autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. While it is unclear how the disease will impact Mila over time, having a diagnosis allows veterinarians to focus on her specific condition and avoid unnecessary procedures. Regular monitoring and preventive health exams will be conducted to detect any secondary pathologies that may arise.