RT Book, Section A1 Sperling, Oded A2 Valle, David L. A2 Antonarakis, Stylianos A2 Ballabio, Andrea A2 Beaudet, Arthur L. A2 Mitchell, Grant A. SR Print(0) ID 1181473809 T1 Hereditary Renal Hypouricemia: Identification of the Gene Defect in Hereditary Renal Hypouricemia T2 The Online Metabolic and Molecular Bases of Inherited Disease YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071459969 LK ommbid.mhmedical.com/content.aspx?aid=1181473809 RD 2024/10/13 AB A major breakthrough in our understanding of the etiology of hereditary renal hypouricemia (HRH) occurred recently owing to identification of the renal urate transporter hURAT1 and demonstration that loss-of-function mutational alterations in the gene SLC22A12 coding for this transporter are associated with HRH.1 These findings have major implications for our understanding of renal urate handling in humans and of the etiology of HRH.2