Alkaptonuria affects males and females in equal numbers, although symptoms tend to develop sooner and become more severe in males. More than 1,000 affected individuals have been reported in the medical literature.

What age group does alkaptonuria affect?

This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.

Why do people suffer from alkaptonuria?

Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. It's an autosomally recessive condition. This means that both of your parents must have the gene in order to pass the condition on to you. Alkaptonuria is a rare disease.