Where Did Alkaptonuria Come from?

The name Alkaptonuria is derived from the Arabic word “alkali” (meaning alkali) and the Greek word meaning “to suck up oxygen greedily in alkali”. The name was created by Boedeker in 1859 after he discovered unusual reducing properties in the urine of a patient.

What is alkaptonuria caused by?

The gene involved in alkaptonuria is the HGD gene. This provides instructions for making an enzyme called homogentisate oxidase, which is needed to break down homogentisic acid. You need to inherit two copies of the faulty HGD gene (one from each parent) to develop alkaptonuria.

Where is alkaptonuria found?

Alkaptonuria is a rare disease. According to the National Institutes of Health, the condition affects about 1 in 250,000 to 1 million people worldwide, but is more common in Slovakia and the Dominican Republic, affecting about 1 in 19,000 people.

Alexander Ross

Alexander Ross

Gaming, Esports & Interactive Media Writer

Alexander Ross has covered the video game industry for a decade, writing deep dives on game design, esports tournaments, VR developments, and gaming culture.