Alkaptonuria (AKU)

What is alkaptonuria?

People with AKU are unable to break down a chemical called homogentisic acid (HGA), which the body naturally produces from protein in food. When HGA can’t be broken down, it builds up in the body instead. With nowhere else to go, it binds to connective tissues like cartilage and over time, turns them black and destroys them. This causes a range of symptoms, many of which do not become apparent until your 30s or 40s.

What are the symptoms of AKU?

With it being such a rare disease, it can be hard to get a diagnosis. Few people have heard of it, and symptoms can often be misdiagnosed. Typically, people are diagnosed after these symptoms have begun to show, or because they need a joint replacement early in life. The severity of the disease usually increases after age 30, and normally more rapidly in men than in women.1

What treatments are available in the US?

If you have already been diagnosed with AKU, or if you think you have it, find out what treatments could be available to you. While there is currently no cure for AKU, there is an FDA-approved treatment, as well as supportive care options to help you manage your symptoms and slow disease progression.