Alkaptonuria and ochronosis | 藥妝百科
![Alkaptonuria and ochronosis](https://i.imgur.com/MEXDLMW.jpg)
Alkaptonuriaandochronosis;geneticdiseasethatischaracterisedbypassingurinethatbecomesblackwhenleftstanding.Theearliestsign;connectivetissue ...
![Alkaptonuria and ochronosis](https://i.imgur.com/MEXDLMW.jpg)
Alkaptonuria is a rare genetic disease that is characterised by passing urine that becomes black when left standing. The earliest sign of the condition is usually dark staining found in nappies or diapers of infants.
The most obvious sign in adults is a thickening and blue-black discolouration of the ear cartilage. This blue-black discolouration of connective tissue (including bone, cartilage, and skin) caused by deposits of yellow or ochre-coloured pigment is called ochronosis.
What causes alkaptonuria and ochronosis?Alkaptonuria is an autosomal recessive inherited disorder, which means that two abnormal genes (one from each parent) are needed to have the disease. The defect causes the body to produce insufficient quantities of an enzyme called homogentisic acid oxidase. This enzyme normally breaks down a ...
Alkaptonuria and ochronosis | 藥妝百科
Exogenous Ochronosis | 藥妝百科
Exogenous Ochronosis | 藥妝百科
Ochronosis | 藥妝百科
![](https://i.imgur.com/MEXDLMW.jpg)
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