Label:
What is Alkaptonuria?
Description:
Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a substance called homogentisic acid. When this enzyme doesn't function properly, the homogentisic acid builds up and causes symptoms of alkaptonuria that include arthritis, black urine and reddish earwax.
Biological elements:
chromosome 3
Concepts precesses:
Tools & methods :