#AI reads Urine# Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Published 09 December, 2025
This study focuses on the diagnosis of sorbitol dehydrogenase deficiency-related neuropathy, a disease caused by biallelic loss-of-function variants in the SORD gene and classified as an autosomal recessive hereditary neuropathy. Previously, accurate diagnosis was difficult based solely on clinical symptoms; molecular genetic testing was complicated due to interference from a pseudogene; and the specificity of serum sorbitol testing (used as a potential biomarker) was limited. The research team recruited confirmed or suspected patients from 7 academic medical centers and 1 non-profit specialty care center, detected sorbitol and xylitol in their urine using a clinically validated gas chromatography-mass spectrometry method, and compared the results with 715 reference samples. The findings showed that the excretion levels of sorbitol and xylitol in the urine of 19 confirmed patients were significantly higher than those in the reference samples, and the combined detection of the two substances achieved 100% sensitivity and specificity for the disease. Additionally, xylitol was identified for the first time as a clinically useful biomarker for this disease. Furthermore, 4 patients with consistent clinical symptoms but unclear genetic testing results (2 carrying variants of unknown significance in the SORD gene and 2 with only a single heterozygous pathogenic variant detected) also exhibited abnormal urinary sorbitol/xylitol levels, while 11 asymptomatic heterozygous carriers had normal levels of these two substances. This urine testing method is rapid, non-invasive, and easy to obtain samples, which can assist in the screening and diagnosis of the disease and provide a basis for cases with uncertain genetic testing results. However, the study has limitations, such as isolated sorbitol elevation in 4 children in the reference population, incomplete clinical information of some patients, and unclarified impact of diabetic status on test results, which require further improvement in future research.
Neurology. 2025 Dec 9;105(11):e214425. doi: 10.1212/WNL.0000000000214425.
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.
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