Regulation of de novo Purine Synthesis in the Lesch-Nyhan Syndrome
The deficiency of hypoxanthine guanine-phosphoribosyltransferase (HGPRT) activity of patients with the Lesch-Nyhan syndrome is accompanied by an accelerated rate of purine biosynthesis de novo. This elevated rate of purine biosynthesis is reflected in fibroblasts cultured from the skin of these patients and is accompanied by elevated levels of phosphoribosylpyrophosphate (PRPP).
KeywordsHuman Lymphocyte Purine Base Normal Lymphocyte Approximate Molecular Weight Purine Biosynthesis
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