problem set answewr

problem set answewr - Answers Problem set 1 What happens in...

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Answers: Problem set 1
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? What happens in individuals that are HGPRT deficient? X Purine salvage pathway
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What happens in individuals that are HGPRT deficient? X Purine salvage pathway Increased purine synthesis Increased purine degradation Increased uric acid PRPP accumulates and activates amidophosphoribosyltransferase (step 2 in IMP synthesis) Example of feed forward activation
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Lesch-Nyhan Syndrome X-linked recessive disorder; nearly all cases are in males Clinical symptoms: overproduction of uric acid neurologic disability behavioral problems If left undiagnosed: nephrolithiasis with renal failure, gouty arthritis, solid subcutaneous deposits dystonia cognitive dysfunction, aggressive/impulsive behaviour, severe self-injurious behavior http://img.medscape.com/pi/e med/ckb/neurology/1134815- 1181356-651.gif
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What happens in adenosine deaminase deficiency? X deoxy ?
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X deoxy Autosomal recessive disorder Deficiency in ADA results in the disorder called severe combined immunodeficiency, SCID
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This note was uploaded on 12/18/2011 for the course BCH 3120 taught by Professor Mary-ellenharper during the Winter '11 term at University of Ottawa.

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problem set answewr - Answers Problem set 1 What happens in...

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