IU School of Medicine diagnoses Indy Zoo Orangutan Mila with rare genetic disease

INDIANAPOLIS — An orangutan at the Indianapolis Zoo has been diagnosed with a rare genetic disease.

Researchers at the Indiana University School of Medicine used molecular testing to diagnose Mila, the zoo's Sumatran Orangutan, with Alkaptonuria.

IU says Mila's diagnosis is the first time the disease has been confirmed molecularly in a primate other than a human.

Mila is six years old and was born at the Indianapolis Zoo in 2016. Researchers say she had a history of dark urine that turned brown upon standing since birth, but has never shown other symptoms. Through the collection of DNA, molecular genetics researchers at IU School of Medicine were able to confirm their diagnosis.

“This was an unexpected finding that ended years of questions about this animal,” said Marcus Miller, PhD, assistant professor of clinical medical and molecular genetics and principal investigator of the study. “We’re proud of this collaborative effort with the zoo that will hopefully lead to better care and treatment of Mila moving forward.”

Alkaptonuria is a rare, autosomal recessive disorder caused by deficiency of an enzyme called homogentisate 1,2-dioxygenase. As an infant, the only symptom is urine that turns black upon standing. Symptoms typically progress slowly, but can lead to chronic joint pain and decreased mobility later in life.

 It is unclear how the disease will impact Mila over time.

“I think the best part about these results is we can de-escalate some of the other studies that might have been recommended,” said Theodore Wilson, MD, assistant professor of clinical medical and molecular genetics. “We don’t need to use anesthesia for imaging, obtain a kidney biopsy or have guests or veterinarians worried. Even though her urine does still turn dark after being out in the environment, fortunately, now it doesn’t need to be a problem that is alarming.”

“People with this disease typically don’t develop symptoms until much later in life, usually in their 30s or 40s,” said Melissa Fayette, DVM, associate veterinarian for the Indianapolis Zoo. “We will continue to monitor Mila closely and perform regular preventive health exams to detect any secondary pathologies that may arise.”