#AI reads Urine# Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release

This abstract focuses on the research of sulfite oxidase (SOX) deficiency, identifying it as a rare inborn error of cysteine metabolism that causes severe neurological damage. In patients, the accumulation of sulfite leads to increased levels of S-sulfocysteine (which mediates excitotoxicity) and thiosulfate (a metabolite of hydrogen sulfide metabolism). The study developed a full-body SOX knockout mouse model (SOXD) with a severely impaired phenotype. Among urinary biomarkers, **thiosulfate accumulation in SOXD mice reached 45 times the normal level, making it the major excreted sulfur-containing metabolite**. Meanwhile, the urinary amino acid profile revealed metabolic rewiring and mitochondrial dysfunction in the mice, further confirming the alterations in hydrogen sulfide metabolism and persulfidation in SOXD. Additionally, the study found that oxidized glutathione and glutathione trisulfide could scavenge sulfite both in vitro and in vivo, extend the lifespan of SOXD mice, and provide a mechanistic basis for the treatment of this disease through sulfite scavenging strategies.

J Clin Invest. 2025 Nov 3;135(21):e181299. doi: 10.1172/JCI181299.

Youhe Gao

Statement: During the preparation of this work the author(s) used Doubao / AI reading for summarizing the content. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the published article.

For earlier AI Reads Urine articles：

https://www.keaipublishing.com/en/journals/advances-in-biomarker-sciences-and-technology/ai-reads-urine/