Indy Zoo orangutan diagnosed with rare genetic disease

INDIANAPOLIS (WISH) — Researchers from the Indiana University School of Medicine have diagnosed a Sumatran Orangutan at the Indianapolis Zoo with a rare genetic disease.

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 usually progress slowly, but can lead to chronic joint pain and decreased mobility later in life.

According to researchers, this is the first time the disease has been confirmed molecularly in a primate other than a human.

The 6-year-old orangutan, Mila, was born in the Indianapolis Zoo in 2016. Mila has a history of dark urine that turned brown upon standing since birth, but has shown other symptoms. Researchers from the IU School of Medicine Department of Medical and Molecular Genetics collected and analyzed Mila’s DNA, diagnosing her with Alkaptonuria.

The research team’s finding were recently published in “Molecular Genetics and Metabolism.”

There have been several reports of the disease in non-human primates, but never any long term studies, so researchers are unsure how the disease will impact Mila over time. However, the diagnosis means that veterinarians don’t have to worry about other potential issues.

“I think the best part about these results is we can de-escalate some of the other studies that might have been recommended. 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.”

Theodore Wilson, MD, assistant professor of clinical medical and molecular genetics.