Abstrakt

The Differential Urinary Metabolite Profiling of Intellectual Disability Disorders Using Untargeted Metabolomics Approach

Vidya Nikam, Suvidya Ranade

Intellectual disability (ID) is a disorder characterized by cognitive delays. Inborn errors of metabolism constitute an important subgroup of ID for which a number of treatments have become available. We aimed to identify potential urine biomarkers of inherited metabolic disorders from the children with intellectual disability using an untargeted Ultra Performance Liquid Chromatography coupled to Mass Spectroscopy (UPLC-MS) based metabolomics approach. All of the patients were having ID, with IQ less than 70 and no recognizable symptoms for the condition. Eleven compounds have been identified that are up regulated in the ID cohort, three of which are previously reported namely Dopamine, Glutarylglycine and Suberic acid. The physiological significance of these markers is discussed. In conclusion, the results of the study indicate that urinary metabolite analysis of ID using sophisticated analytical high throughput techniques may be an important tool to achieve an early diagnosis and therapy of several metabolic defects, and reflect the underlying biology of ID.