Alkaptonuria

=__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.



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]