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Disease name : Alkaptonuria , also known as " bleak urine disease "
Affected populations : Theexact prevalence of alkaptonuria worldwide is unknown . However , estimates suggest that the disease dissemble between 1 in 250,000 and 1 in 1 million people in the U.S. More than 1,000 cases of alkaptonuria have been report in the aesculapian literature . Individuals from any chemical group can potentially develop the disease , disregardless of their gender , race or other factors . However , alcaptonuria is a recessionary transmissible upset , entail people will only grow it if theyinherit two incorrect copies of a specific gene — one from each of their parents .
Patients with alkaptonuria have dark-stained connective tissues and black urine because a genetic mutation causes an enzyme involved in protein metabolism to malfunction.
Causes : People with alcaptonuria areunable to fully cave in down all the building blocks of proteinsthat they consume or that their body make . This is because a genetic mutation in a cistron calledhomogentisate 1,2 - diooxygenase ( HGD)causes an enzyme that commonly does the job to malfunction . accordingly , a chemical called homogentisic acid accumulates in unlike tissues in the body , especially in connective tissue paper , such ascartilage .
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Symptoms : One of the early signal that someone has alkaptonuria isdark stains in their diapersas babies , because the homogentisic acid in their urine turns black upon exposure to air .
Darkened patches of skin on the face of a patient with alkaptonuria.
Besides sorry piddle , people with alkaptonuria often have no other noticeable symptoms of the disease until they are in their later 20s or former 30s .
Over time , homogentisic acid continue to build up in a person ’s tissues , staining those tissue a slate spicy or black colorand finally soften and damaging them . This can lead tosevere deformities in the joints and spine , as well as organ dysfunction , including issue with thekidneys and heart . Symptoms of alkaptonuria lean to bemore dangerous and come on soonerin males than in females .
Although patient with alcaptonuria tend to havea normal life expectancy , the disease can markedly impact their quality of life .
— Woman ’s blood turns a shocking shade of blasphemous after she used tooth - numbing gel
— Man sprouted thick , gullible ' fur ' on his tongue in curious medical font
— Why this man ’s blood turned ' milky ' colored
Treatments : There is currentlyno cure for alcaptonuria , but scientist are studying the potential use of a drug called nitisinoneto slow the progression of the disease . Affected individual can also take steps to manage their symptoms , let in taking painkiller and exercise on a regular basis to help strengthen their joints . adopt a low - protein dietcan also help some patient role .
Around half of patient with alkaptonuria will demand hip , knee or shoulder joint replacement , usually by the age of 50 or 60 .
This article is for informational design only and is not intend to offer medical advice .
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