NAD Synthesis by Erythrocytes in Phosphoribosylpyrophosphate Synthetase (PRPPs) Superactivity
Inherited superactivity of the enzyme PRPP synthetase (E.C.2.7.6, 1.) has been described in some 10 families due to a number of different kinetic or regulatory alterations, associated with purine nucleotide and uric acid overproduction1, 2. In contrast with most cases, in which clinical manifestations, restricted to uric acid pathology, appear in the early adulthood, a few cases have been described with precocious manifestation of both uric acid overproduction and severe neurological deficits, including inherited nerve deafness3–5. The biochemical basis for the difference in the clinical expression of the defect is unknown.
KeywordsUric Acid Total Radioactivity Pyridine Nucleotide Severe Neurological Deficit Isotonic Medium
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- 11.V. Micheli, S. Sestini, M. Rocchigiani, M. Pescaglini, C. Ricci, Nucleotide synthesis in the human erythrocyte: correlation between purines and pyridines, Biomed. Biochim. Acta 46: 268 (1987).Google Scholar