Diagnosis

Diagnosis/testing

Bonjour Broritos !!! Hope u guys are having a wonderful start to 2015

Usually Alkaptonuria is either detected at a very early stage of life or during adulthood. Alkaptonuria is detected at a very early age when the oxidised form of HGA,Benzoquinone acid( turns urine to black ) is found in diapers. During adulthood, alkaptonuria patients gets diagnosed when they complain of back and joint pain.

Confirmation of alkaptonuria is through gas chromatography-mass spectrometry analysis. A patient with alkaptonuria will have about 1-8 g of HGA in the urine.

You might be wondering what is gas chromatography-mass spectrometry. It is the combination of both gas chromatography and mass spectrometry. In gas chromatography, the molecules are separated based on interaction with stationary phase(column). Molecules with stronger and frequent  interaction with stationary phase will elute out later. The mass spectrometry is located downstream to break each molecules to ionized fragments and detect these fragments using charged to mass ratio.

Other diagnosis include urinalysis. In this method, ferric chloride is added to see whether the urine turns black in colour.

Furthermore, it is also commonly associated to symptoms such as moderate pain during urination and frequent fainting after urination during the night. In case you guys didn't know, the black urine actually looks normal when its freshly passed, it only turns black after a while because it is oxidised by the air. And interestingly, alkali speeds up that oxidation process. That means doctors can use substances like caustic soda or caustic potash to make the urine sample alkaline, which is then placed on sensitised photographic paper, turning the paper black (positive test). So diagnosis this way, is really easy and fast! 

NO GRANDPA! Just because your pee's black doesn't mean it's gasoline!!!

Testing

Molecular genetic testing is also available to measure the risk of a family member inheriting the disease.

OOOOOOOOOOOOhhhhhhhhhhhhhh Noooooooooooooooooooooooooooooo!!!!!!!!!

I am tested positive for Alkaptonuria:(

Next up :Treatment

PEACE OUT

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