In this study, we found and analyzed a representative case of pediatric-onset hyperuricemia and early-onset gout in a Czech family associated with two newly identified, one functionally deficient and the other a null mutation, in ABCG2. A positive family history of hyperuricemia/gout in the context of ABCG2 dysfunction was observed in the maternal line (the mother, maternal uncle, and maternal grandfather) of the proband (a young girl, of Roma ethnicity, with chronic asymptomatic hyperuricemia); her father exhibited elevated serum urate that seemed to be associated with metabolic syndrome. Here, ABCG2 is linked to gout.