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ID 15931

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.
Keywords:
chromosome 3,alkaptonuria,rare disorder,mutations,arthritis
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