Alkaptonuria

Causes

What gene change causes Alkaptonuria?

Changes in the HGD gene cause Alkaptonuria. This gene provides instructions for making the enzyme homogentisate 1,2-dioxygenase that breaks down homogentisic acid. This is the only gene that is known to cause Alkaptonuria. At least 115 different changes that cause Alkaptonuria have been identified in the HGD gene. A database of these changes can be found at http://hgddatabase.cvtisr.sk/variants.php?action=search_unique&select_db=HGD.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me