What is Alkaptonuria?
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.
chromosome 3,alkaptonuria,rare disorder,mutations,arthritis
- ID: 15931
- Source: DNALC.DNAi
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