Tuesday 23 December 2014

History of alkaptonuria


Welcome back Broritos to a very special blog from your own A&K connection!
Oh but before I forget…

Merry Christmas Eve! XD Yayyyy!!!

Today’s blog is a little less on the hard science and more the fun part of it! In fact, we are going to take u guys through a very short history “lesson” on Alkaptonuria. Don’t worry guys, this’ll be a lot more fun than history lessons in secondary school!

 
Why you ask? Well that’s because we made you Broritos a special video on the history of Alkaptonuria as your Christmas present! Enjoy and don’t forget your delicious snacks! :D




Of course for those of you who are interested to know more in detail, I’ve written it down below for you guys:

Alkaptonuria was first discovered by a british physician named Sir Archibald Garrod (1857-1936) in 1901. He showed great interest in his patient’s urine and one day, examined a three-month-old patient called Thomas P. He saw an unusual bluish black stain on the diaper (remember that during those times Alkaptonuria was an unknown disease). Later, Thomas’ two other siblings were born and also had the same black diaper stains. Thomas’s parents were actually cousins (unaffected from disease) and their mothers were siblings. One day, Sir Garrod read bateson’s description on Mendel’s work and soon everything becomes much clearer. He discovered that Thomas’s parents each contributed a mutated allele causing thomas and his siblings to inherit the disease.He credits Mendel’s law for his sudden realization. SIr Garrod was the first pioneer to link hereditary to metabolic linked diseases. He called such diseases “inborn errors of metabolism”. Just like many other great scientists,Sir Garrod’s work was not recognised and appreciated during  his lifetime. SOOOO SAD:(

(Fun fact: Sir Garrod’s father was the first person to discover abnormal uric acid metabolism and his daughter was the first women to hold an oxbridge chair

(Another fun fact: An egyptian mummy named Harwa suffered from Alkaptonuria during 1500 BC)


ALRIGHT BRORITOS!! Hope u had a fun history lesson

PEACE OUT

6 comments:

  1. Be sure to let us know what you'd like us to write more about! Feel free to comment and ask us questions in the comments! Peace out Broritos!

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  2. Is there any treatment available for people with Alkaptonuria?

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  3. Hey Rose!! Unfortunately,there is no current cure for Alkaptonuria. However, there is a drug called nitisinone which can lower HGA levels in the body.Other treatments can be lowering protein intake and consuming adequate vitamin C. I will be posting more on treatment soon. Good question btw!! :)

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  4. Omg the video was amazing!! :O :O How did you all do it?! I love your blog btw its really entertaining! :D Keep up the good work!

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  5. Thank you Mei Ying!! It is our pleasure to keep our bloggers entertained and educated about Alkaptonuria at the same time. :)

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  6. Hi Mei Ying. Thanks for your feedback on the video. I used a software called VideoScribe. It's really handy for making animations like that. But it does take a lot of time and effort to do it still, so I'm glad you enjoyed it!

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