A&K connection signing off

Hey guys, it's the A&K connection!

Hopefully you guys have been missing us, because we sure miss you!

We received really great feedback from all of you throughout our entire blog so far. In particular, one of our most popular and well liked post was on the History of Alkaptonuria. Many of you loved the video and we are more than appreciative of all the support.

But we cannot truly express our appreciation by simply saying thank you...

So for the first time ever, just for you special folks out there, we made a game.

Yes, we made a game for YOU. Because we love you.

Now, it is a very simple text game, kind of like a role playing game, but the game is all about alkaptonuria, just like our blog :) You get to make choices which affect how the game reacts to your answers.

To play it, you'll have to download it from Dropbox. Just follow the link. Once it's downloaded, just click it to play!

https://www.dropbox.com/s/kb074i8e6m466dz/Alkaptonuria%20quiz%20game.exe?dl=0

Disclaimer: Your computer will tell you the file is infected with a virus. Rest assured, the file is safe. It automatically labels it as unsafe because the publisher (me) is unknown. Scan it with your antivirus software and you will see that it is perfectly safe.

And with that, time to say goodbye...

Stay classy Broritos.

A&K connection

signing off

Treatment

Treatment

Hello broritos

Today I am going to talk about the available treatment for Alkaptonuria.

Unfortunately, there is no available cure for Alkaptonuria. However, there are treatments for symptom relief and prevention of further complication. According to a doctor in Liverpool, cure for Alkaptonuria is possible in the next 10-15 years using gene therapy.

Finally, some good news for Alkaptonuria patients.

WELL !! THERE IS NO CURE!! BUT, AT LEAST THERE IS TREATMENT :)

1)Nitisinone is a drug administered to reduce HGA level. Currently, Nitisinone is in advanced clinical trials.

Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenase which is required to convert 4-hydroxyphenylpyruvate to HGA.Thus by taking in nitisinone, the body’s HGA drops as HGA is not produced anymore. In some research studies, the amount of HGA released in the urine dropped by 95%. However, significant improvement in mobility and musculoskeletal function was not observed. In most patients, side effects were not observed although a handful had side effects such as corneal crystals, liver transaminase and elevated plasma tyrosine level (tyrosinemia). Most of these side effects were noticed during short trials such as 15 weeks.  Long time side effects are still unknown. Furthermore, a patient under nitisinone is theoretically able to develop neurologic complications associated with tyrosinemia type III. Another effect of high plasma tyrosine levels is irritation in the corneas.

Yea, you may not want those contacts buddy...

But you may be wondering, aren't those side effects really bad? Tyrosinemia is no joke! And you're absolutely right. But research has shown that very simply it can be alleviated by restricting on foods with high tyrosine and phenylalanine content, such as cheese, nuts, milks and some meats.


Homer thinks this should be in the Complications section of Alkaptonuria

2) Low protein diet has shown to reduce the amount of HGA in the urine. However, long term side effects are possible and it is not a practical for daily living

MORE WEIGHTS, MORE PROTEIN!! WHO CARES ABOUT ALKAPTONURIA!! 

3) Increasing vitamin C uptake has been hypothesized to prevent deposition of ochronotic pigments on the bones and slow down arthritis. However, the amount of HGA excreted in the urine remains the same and consuming way too much vitamin C might possibly contribute to elevated HGA levels as it increases tyrosine synthesis.

4) physical activity such as swimming will help alkaptonuria patients to maintain bone and muscle strength. However, high impact sports such as weight lifting should be avoided as it can further damage the bones.


WHY IS THERE NO FISH IN THIS POND !!!!

OK GUYS !! HOPE U GUYS ENJOYED OUR BLOG!! HAVE A GREAT YEAR AHEAD!!

PEACEOUT
A&K CONNECTIONS

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

A&K CONNECTIONS