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Article

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

American journal of human genetics - 1 Dec 2008

Matsuo Hirotaka, Chiba Toshinori, Nagamori Shushi, Nakayama Akiyoshi, Domoto Hideharu, Phetdee Kanokporn, Wiriyasermkul Pattama, Kikuchi Yuichi, Oda Takashi, Nishiyama Junichiro, Nakamura Takahiro, Morimoto Yuji, Kamakura Keiko, Sakurai Yutaka, Nonoyama Shigeaki, Kanai Yoshikatsu, Shinomiya Nariyoshi

Abstract excerpt

Renal hypouricemia is an inherited disorder characterized by impaired renal urate (uric acid) reabsorption and subsequent low serum urate levels, with severe complications such as exercise-induced acute renal failure and nephrolithiasis. We previously identified SLC22A12, also known as URAT1, as a causative gene of renal hypouricemia. However, hypouricemic patients without URAT1 mutations, as well as genome-wide...

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Identifiers

PMID: 19026395
DOI: 10.1016/j.ajhg.2008.11.001
PMCID: PMC2668068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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