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

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