Alkaptonuria

By: Tony Piccolo
Basic Information

Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Your urine could change color to a blue or black color when exposed to air, if there is a buildup of homogentisic. The buildup could also cause your bones and cartilage to become brittle and discolored. Any treatment for Alkaptonuria focuses on preventing and relieving possible complications, such as osteoarthritis and coronary heart disease.

IJD-56-194-g003.jpeg


Molecular Basis Information

Alkaptonuria has a place in the history of human genetics, the reason why is because it was the first disease to be interpreted as a mendelian recessive trait. The result of Alkaptonuria is the loss of homogentisate 1,2 dioxygenase activity. Large amounts of homogentisic acid is accumulated in your body which would cause your urine to darken, and your bones and cartilage to become brittle and discolored

Works Cited


https://www.researchgate.net/publication/14419666_The_molecular_basis_of_alkaptonuria
http://www.healthline.com/health/alkaptonuria#Overview1