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| | Purine and pyrimidine disorders (Site not responding. Last check: 2007-09-18) |
 | | The function of purine and pyrimidine metabolism is to maintain the supply of these basic components to the different nucleotide pools, largely through an extremely efficient mechanism involving the degradation and recycling of the daily waste products of normal cell turnover, derived during red cell senescence, muscle work, wound healing, etc. |
 | | The first inherited purine disorder, xanthine dehydrogenase deficiency, was reported as a clinical entity in 1954. |
 | | The importance of the normal recycling of purine bases to the feedback control of purine synthesis is demonstrated by the gross overproduction found in the disorders where this is defective: hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency, aberrant phosphoribosylpyrophosphate synthetase (PRPS) activity, purine nucleoside phosphorylase (PNP) and adenylosuccinase (ADS) deficiencies. |
| www.amg.gda.pl /~essppmm/disorders.html (1299 words) |
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