1. Biochemistry
  2. Guthrie Test – Video

Guthrie Test – Video

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Video Link: https://www.youtube.com/watch?v=yjD40doZsEw



Guthrie Test
My weekly Guthrie blood test (for Maple Syrup Urine Disease). MSUD is an inherited genetic disorder, passed down from two non-affected #39;carrier #39; parents. The worldwide incidence is somewhere between one in 185000 and one in 250000. MSUD disrupts the metabolism of three components of protein called branched chain amino acids (or BCAA; individually named Leucine, Isoleucine and Valine). Because of this metabolic blip individuals have to strictly monitor and control their diet, lifestyle and biochemistry, as well as avoid alcohol and certain types of medication. This stops the BCAA levels building up inside the body, thus maintaining health. If the BCAA levels get too people with MSUD become life-threateningly ill, as well as the urine, ear wax, breath and sweat smelling of Maple Syrup (usually how the disorder is diagnosed in infants). The only out-and-out cure for symptoms of MSUD is a liver transplant, but the person will still be a carrier and have to watch for rejection/take immunosuppressants for life. The best place in the world for metabolic transplants - the Children #39;s hospital in Pitsburgh, has a 90% success rate in liver transplantation. However, this is a procedure which I do not feel would be right for me at this time, and therefore I continue to follow my management protocol. Didn #39;t mean this to be the first video, hence saying it #39;s #39;Laura again #39; at the start!

By: catherinespark

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Guthrie Test - Video

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  1. Biochemistry
  2. Guthrie Test – Video