Clinical and genetic analysis of MOCOS gene-related hypouricemia

Sustained low serum uric acid levels may indicate monogenic uric acid metabolism disorders, and these patients should undergo genetic testing. In patients diagnosed with xanthinuria type II caused by <i>MOCOS</i> gene variants, the use of purine drugs should be prohibited to avoid serious adverse events. Given the severe defects in the <i>MOCOS</i> gene-deficient mouse model, additional research is needed to clarify the clinical profile of Xanthinuria type II and the other roles of MOCOS in metabolic pathways.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-10-14
DOI
https://doi.org/10.3389/fgene.2025.1636032
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
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article

Clinical and genetic analysis of MOCOS gene-related hypouricemia

Xiao Wei, Xinyu Hu, Huifang Peng, Hongwei� Jiang et al.
Frontiers in Genetics
Erythrocyte Function and Pathophysiology
article

Clinical and genetic analysis of MOCOS gene-related hypouricemia

Xiao Wei, Xinyu Hu, Huifang Peng, Hongwei� Jiang, Jinpeng Tang, Yingyu Zhang, Qing Ma, Ping Tu
article en

Abstract

Sustained low serum uric acid levels may indicate monogenic uric acid metabolism disorders, and these patients should undergo genetic testing. In patients diagnosed with xanthinuria type II caused by <i>MOCOS</i> gene variants, the use of purine drugs should be prohibited to avoid serious adverse events. Given the severe defects in the <i>MOCOS</i> gene-deficient mouse model, additional research is needed to clarify the clinical profile of Xanthinuria type II and the other roles of MOCOS in metabolic pathways.

Frontiers in GeneticsVol. 16
Jiangxi University of Traditional Chinese Medicine (CN), Third Hospital of Nanchang (CN), Second Hospital of Nanchang (CN), First Affiliated Hospital of Henan University of Science and Technology (CN)
Openalex Percentile: Top 64%
Erythrocyte Function and Pathophysiology
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Clinical and genetic analysis of MOCOS gene-related hypouricemia — Xiao Wei, Xinyu Hu, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS