Alkaptonuria

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Alkaptonuria is a rare genetic disease that affects 1 in 250,000 people in the UK. It is caused by the affected person not having an Enzyme called homogentisic acid oxidase (HGAO). Without this enzyme the person can not break down homogentisic acid which causes it to build up in the cartilage. This can produce many symptoms from ochronosis to joint swelling [1].

References

  1. http://www.alkaptonuria.info/en/what_is_aku.php, National Heart, Lung, and Blood Institute National Institutes of Health, 2010
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