#AI reads Urine# Urinary Biomarker Monitoring in Evaluating Allopurinol Efficacy for Young Patients with Adenylosuccinate Lyase Deficiency

This study conducted a 12-month Phase II prospective trial to evaluate the efficacy of allopurinol in patients with adenylosuccinate lyase deficiency (ADSLD), with 8 participants (4 children and 4 young adults) receiving the corresponding dose of treatment. In the study, the monitoring of urinary biomarkers (SAICAr, S-Ado, and S-Ado/SAICAr ratio) played a crucial role: it was not only used to confirm the severity of the patients' condition at baseline (e.g., an S-Ado/SAICAr ratio < 1.8 indicates a severe infantile form, while > 2 indicates a mild form) but also to assess the therapeutic effect. Younger patients with less cognitive impairment showed a significant decrease in urinary SAICAr levels and an increase in the S-Ado/SAICAr ratio after treatment, and these changes in biochemical indicators were associated with their clinical improvements in adaptive behavior (such as increased VABS II scores) and behavioral symptoms (such as decreased hyperactivity scores on the ABC scale). In contrast, older patients or those with poor compliance did not show such improvements in biochemical indicators or clinical symptoms. Meanwhile, the monitoring of urinary biomarkers also facilitated dose adjustment and the assessment of treatment compliance. Additionally, allopurinol was well-tolerated but had no improvement effect on epilepsy, suggesting that it may be a viable treatment option for younger ADSLD patients🔶.

J Inherit Metab Dis. 2025 Nov;48(6):e70092. doi: 10.1002/jimd.70092.

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/