Unbelievable discovery: Rare genetic disease found in orangutan at Indianapolis Zoo! You won't believe what it is!

Researchers from Indiana University School of Medicine have identified a rare genetic disease, Alkaptonuria, in a Sumatran Orangutan named Mila at the Indianapolis Zoo. This groundbreaking discovery marks the first molecular confirmation of the disease in a primate other than humans.

Alkaptonuria is an autosomal recessive disorder caused by the deficiency of an enzyme called homogentisate 1,2-dioxygenase. Mila, a six-year-old orangutan, exhibited dark urine that turned brown upon standing since birth, the primary symptom of this condition. However, she has not shown any other symptoms related to the disease.

The research team, led by Marcus Miller, PhD, Assistant Professor of Clinical Medical and Molecular Genetics, conducted DNA analysis to diagnose Mila with Alkaptonuria. Their findings were published in Molecular Genetics and Metabolism.

While the long-term impact of the disease on Mila remains uncertain due to the lack of previous studies on non-human primates, this diagnosis allows veterinarians to focus on providing appropriate care and treatment for her. Theodore Wilson, MD, Assistant Professor of Clinical Medical and Molecular Genetics, emphasized that the results de-escalate the need for other potentially invasive studies and interventions.

Melissa Fayette, DVM, Associate Veterinarian for the Indianapolis Zoo, explained that people with Alkaptonuria typically develop symptoms in their 30s or 40s. Hence, regular monitoring and preventive health exams will be conducted for Mila to detect any potential secondary pathologies.