Alkaptonuria

2010-11-15T14:34:06Z

090537772:

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<ref name="null">(http://www.alkaptonuria.info/en/what_is_aku.php, National Heart, Lung, and Blood Institute National Institutes of Health, 2010)</ref>.

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Alkaptonuria

2010-11-15T14:33:40Z

090537772: Created page with '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 oxid…'

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<ref name="null">(http://www.alkaptonuria.info/en/what_is_aku.php,National Heart, Lung, and Blood Institute National Institutes of Health, 2010)</ref>.

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Alkaptonuria

Alkaptonuria