Affected populations: The exact prevalence of alkaptonuria worldwide is unknown. However, estimates suggest that the disease affects between 1 in 250,000 and 1 in 1 million people in the U.S. More ...

Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Learn about the symptoms, causes, and treatment.

Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective ...

Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. This is responsible for the degradation of homogentisic acid (HGA) to maleylacetoacetic acid via ...

INDIANAPOLIS — Researchers from Indiana University School of Medicine diagnosed a Sumatran orangutan at the Indianapolis Zoo with a rare genetic disease. Mila, a 6-year-old orangutan who was ...

A new study published in The Lancet, led by a Liverpool based research collaboration, has identified the first effective treatment for a rare genetic condition known as alkaptonuria (AKU).

A new study has identified the drug that treats the extremely rare genetic disease alkaptonuria (AKU).

Alkaptonuria is an unusual disorder caused by a defect in protein metabolism.