Fibroblast Phosphoribosylpyrophosphate and Ribose-5-Phosphate Concentration and Generation in Gout with Purine Overproduction
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Despite the identification of several hereditary enzyme abnormalities which result in excessive uric acid synthesis (1–4), the underlying metabolic defects in the great majority of individuals with gout and purine overproduction have not been defined by routine screening of enzyme activities (5,6). For this reason, a different approach to the identification of additional enzyme abnormalities or of subtle variants of known enzyme abnormalities has been developed (7). This approach is based on our present understanding of the regulation of the rate of purine synthesis de novo schematically summarized in Figure 1.
KeywordsUric Acid Purine Nucleotide Erythrocyte Lysate Purine Synthesis Uric Acid Excretion
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