Why does a defect on chromosome 3 turn urine black?
In short: This video explores Alkaptonuria, a rare inherited disorder where the body struggles to break down proteins. At the Royal Liverpool University Hospital, we tour the National AKU centre to observe scientists investigating this condition and creating novel therapies.
Alkaptonuria, often called black urine disease, is caused by a defective gene located on chromosome 3. This genetic malfunction prevents the body from effectively breaking down certain proteins, which leads to a distinct discoloration of the urine.
Beyond the visible symptoms, the condition can progress to cause significant joint damage and mobility issues for those affected. Researchers at the Royal Liverpool University Hospital are currently investigating the mechanisms of the disease to find effective new therapies.
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Sources
- Summary by Intellect · source: Chromosome 3 - AKU: Black urine disease
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