All articles tagged with #alkaptonuria
A 65-year-old woman in Austria was diagnosed with a rare genetic disorder called alkaptonuria after presenting with severe aortic stenosis and unusual black pigmentation in her heart tissues, which was treated successfully with surgery. The condition involves the buildup of homogentisic acid, leading to tissue staining and calcification, and is often underdiagnosed due to its rarity.
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.