Summary of Study ST002750
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR001713. The data can be accessed directly via it's Project DOI: 10.21228/M88X3T This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.
| Study ID | ST002750 |
| Study Title | A Comprehensive Metabolomics Profile for Newborns with Maple syrup urine disease |
| Study Type | Untargeted LCMS |
| Study Summary | Background: Maple syrup urine disease (MSUD) is a genetic inherited disorder caused by a defect in the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex function. This complex usually breaks down three amino acids: leucine, isoleucine, and valine. Therefore, abnormal activity in this process, can impact important bodily functions and lead to metabolic dysregulation related to the disease complications. A wide range of studied endogenous metabolites and dysregulated biomarkers and pathways provide a huge core support for the treatment and follow-up of newborn MSUD patients. Objectives: In this study, we aim to investigate MSUD’s distinctive profile in newborn MSUD patients using untargeted metabolomics to contribute to the growing knowledge surrounding MSUD and pathways involved for improving patient outcomes. Methods: In this study, untargeted metabolomics analyses via liquid chromatography–mass spectrometry was used to investigate metabolic changes in dry blood spot (DBS) of 22 MSUD newborns and 22 healthy newborns. Results: The metabolomics results revealed 1040 significantly dysregulated metabolites, where 303 and 737 were up- and down-regulated, respectively. 480 metabolites were annotated and 210 were identified as endogenous metabolites. The study identified potential biomarkers for MSUD such as L-Alloisoleucine and Methionine sulfoxide were upregulated in MSUD newborn compared to healthy newborns, while LysoPI was downregulated in MSUD newborns. In addition, the most affected pathways in MSUD Newborns were ascorbate and aldarate, Pentose and glucuronate interconversions and pyrimidine metabolism. Conclusion: Our results demonstrate metabolomics as a noninvasive strategy to understand the pathophysiology of the disease and is a promising tool to evaluate the potential biomarkers in the early diagnosis of newborn MSUD. Future studies are needed to correlate these dysregulated metabolites with defective mechanisms. |
| Institute | King Saud University |
| Department | Biochemistry |
| Laboratory | Biochemistry |
| Last Name | Alotaibi |
| First Name | Abeer |
| Address | 2808 |
| abeerotb12@gmail.com | |
| Phone | 966551933703 |
| Submit Date | 2023-05-29 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | raw(Waters) |
| Analysis Type Detail | LC-MS |
| Release Date | 2023-07-18 |
| Release Version | 1 |
Select appropriate tab below to view additional metadata details:
Collection:
| Collection ID: | CO002850 |
| Collection Summary: | Forty-four DBS samples were collected form biochemically and genetically confirmed MSUD newborns (n=22) at King Faisal Specialist Hospital and Research Center (KFSHRC) and healthy controls (n=22). These healthy individuals were almost age-sex matched with MSUD's group (Female 53%). Samples from newborn patients and controls elder than 14 days were excluded from this study, as well as any IEM other than MSUD excluded. |
| Collection Protocol Filename: | MSUD_biological_samples.docx |
| Sample Type: | Dry Blood Spot |
| Storage Conditions: | -80℃ |
