How Is Alkaptonuria Inherited?

Alkaptonuria is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

Does alkaptonuria run in families?

Alkaptonuria is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.

What are the symptoms of alkaptonuria?

An obvious sign of alkaptonuria in adults is thickening and blue-black discolouration of ear cartilage. This is called ochronosis. The earwax may also be black or reddish-brown. Many people develop brown or grey spots on the whites of their eyes as well.