Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

ConclusionClinical findings in previously reported females with PRPS1 superactivity showed a high clinical penetrance of this disorder with a mean serum urate level of 8.5 (4.1) mg/dl [506 (247) μmol/l] and a high prevalence of gout. These findings indicate that all women in families with PRPS1 superactivity should be genetically screened for a mutation (for clinical management and genetic counselling). In addition, women with tophaceous gout, gout presenting in childhood, or a strong fami ly history of severe gout should be considered forPRPS1 mutational analysis.
Source: Rheumatology - Category: Rheumatology Source Type: research