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Article

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

BMC medical genetics - 10 Aug 2018

Zhou Zhaowei, Ma Lidan, Zhou Juan, Song Zhijian, Zhang Jinmai, Wang Ke, Chen Boyu, Pan Dun, Li Zhiqiang, Li Changgui, Shi Yongyong

Abstract excerpt

BACKGROUND: Renal hypouricemia (RHUC) is a heterogeneous genetic disorder that is characterized by decreased serum uric acid concentration and increased fractional excretion of uric acid. Previous reports have revealed many functional mutations in two urate transporter genes, SLC22A12 and/or SLC2A9, to be the causative genetic factors of this disorder. However, there are still unresolved patients, suggesting the...

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Asian People
Heterozygote
Mutation
Organic Anion Transporters
Organic Cation Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Renal Tubular Transport, Inborn Errors

Urinary Calculi

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Identifiers

PMID: 30097038
DOI: 10.1186/s12881-018-0595-8
PMCID: PMC6086067

Genes

PDZK1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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