#AI reads Urine#Urine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II
Published 13 January, 2026
This document focuses on research into Mucopolysaccharidosis Type I and Type II, both of which are rare lysosomal storage diseases. They result from the lack of specific enzymes, leading to the accumulation of glycosaminoglycans in the body, which causes similar clinical symptoms but is difficult to distinguish. Existing diagnostic methods have shortcomings. The research team collected urine samples from 14 patients with Mucopolysaccharidosis Type I, 12 patients with Mucopolysaccharidosis Type II, and 12 healthy children. They used tandem mass tag mass spectrometry to analyze differentially expressed proteins and then verified the results using parallel reaction monitoring technology. It was found that there were 227 differentially expressed proteins with consistent change trends in the urine of patients with the two diseases, among which hexosaminidase B was significantly up-regulated and hemoglobin alpha-1 was significantly down-regulated. Most of these commonly changed proteins were related to pathways such as immune response and coagulation cascade. At the same time, 391 differentially expressed proteins that could distinguish the two diseases were identified. The content of dehydrogenase/reductase 2 in the urine of patients with Mucopolysaccharidosis Type II was much higher than that in Type I, which may be related to more severe inflammation and oxidative stress in Type II. This study provides ideas for understanding the pathogenesis of the two diseases, developing more convenient diagnostic methods, and finding common treatment options. However, it has limitations such as a small sample size and differences in gender ratio, which require further verification in subsequent studies.
Clin Biochem. 2025 Dec:140:111011. doi: 10.1016/j.clinbiochem.2025.111011.
Youhe Gao
With Doubao
2025.12.2
For earlier AI Reads Urine articles：https://www.keaipublishing.com/en/journals/advances-in-biomarker-sciences-and-technology/ai-reads-urine/