Increased Purine Nucleotide Degradation in the Central Nervous System (CNS) in PRPP Synthetase Superactivity
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Inherited superactivity of PRPP synthetase is an unusual cause of purine overproduction, hyperuricemia, gout and uric acid urolithiasis (1) that is seldom associated to neurological symptoms. We know of 3 reported families in which both hemizygous males and heterozygous females have had evidence of uric acid overproduction and neurological deficits, including sensorineural deafness (2–5).
KeywordsUric Acid Serum Urate Purine Metabolism Sensorineural Deafness Hypoxanthine Phosphoribosyl Transferase
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