Advances in non-targeted metabolomics of intellectual disability

VernacularTitle:智力障碍非靶向代谢组学的研究进展
Author: Baiyu CHEN ¹ ; Mengli ZHUANG ; Shimeng CHEN ; Juan XIONG ; Fei YIN ; Guanglu YANG
Author Information

1. 内蒙古医科大学附属医院儿科，呼和浩特　010050
Publication Type:Journal Article
Keywords: Intellectual disability; Global developmental delay; Neurodevelopmental disorders; Metabolomics; Mass spectrometry
From: Journal of Chinese Physician 2025;27(3):478-480
CountryChina
Language:Chinese
Abstract: Intellectual disability (ID) is a kind of neurodevelopmental disorder with high clinical and genetic heterogeneity, which seriously endangers the physical and mental health of children. Its etiology is complex, many genetic and environmental factors can participate in the pathogenesis, and metabolic disorders are one of the important etiology. Targeted assays such as plasma amino acids and acylcarnitine and urinary organic acids are of limited use in helping to diagnose and manage these patients. Non-targeted metabolomics has become a tool to explore changes in the metabolites of organisms and a means to study possible biomarkers of such diseases. In recent years, metabolomics technology has made some progress in the etiology and mechanism of ID, providing new ideas and methods for its early recognition, treatment and improvement of prognosis. This paper reviews the progress of non-targeted metabolomics in ID.