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Essay

Lesch Nyhan Syndrome

Essay specific features

 

Issue:

Science

 

Written by:

Daniel T

 

Date added:

February 11, 2012

 

Level:

University

 

Grade:

A

 

No of pages / words:

5 / 1194

 

Was viewed:

8842 times

 

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Essay content:

It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers of the allele. Lesch Nyhan is associated with an almost complete absence of the enzyme HGPRTase (hypoxanthene guanine phosphoribosil transferase)...
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This is the enzyme that recycles hypoxanthen and guanine, which are two of the genetic building blocks. When this enzyme is not present, the hypoxanthen and guanine are converted into excessive uric acid. Children around four to six months old are usually diagnosed with LND when orange, sand like uric acid crystals are observed in their diapers...
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