Summary of Study ST003171
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 PR001971. The data can be accessed directly via it's Project DOI: 10.21228/M8Z72R 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 | ST003171 |
| Study Title | Untargeted Metabolomics for Exploring Metabolomic Profile of Maple Syrup Urine Disease Sick Patients |
| Study Type | Untargeted LCMS |
| Study Summary | Abstract non-newborn: Background: A malfunction in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex results in maple syrup urine disease (MSUD), a genetically inherited illness. Three amino acids—leucine, isoleucine, and valine—are typically broken down by this complex. Abnormal activity in this process, therefore, can affect vital body systems and result in metabolic dysregulation associated with the consequences of the disease. The therapy and follow-up of ill MSUD patients are greatly aided by many researched endogenous metabolites as well as dysregulated biomarkers and pathways. Objectives: Our goal is to add to the increasing knowledge of information about sick MSUD with relation to MSUD newborns and the pathways that are involved in improving patient outcomes by utilizing untargeted metabolomics to examine the unique profile of MSUD in sick MSUD patients. Methods: This study evaluated the metabolic changes in the dry blood spot (DBS) of 14 sick MSUD patients and 14 healthy controls utilizing untargeted metabolomics studies performed with liquid chromatography–mass spectrometry. Findings: Based on metabolomics analysis,7754 metabolites were found to be highly dysregulated.Out of them,3716 were up-regulated and 4038 were down-regulated.1557 of the annotated metabolites were found to be endogenous metabolites. The research found possible biomarkers for MSUD, including Glutathioselenol and dUDP, which were elevated in sick MSUD relative to healthy controls and LysoPI downregulated in sick MSUD. Moreover, the Sphingolipid metabolism, selenocompound metabolism and porphyrin metabolism pathways were the most impacted in MSUD newborns.This study shows 92 endogenous metabolites between newborn MSUD and sick MSUD. In summary, our findings shows that metabolomics is a noninvasive approach to understanding the pathophysiology of the medical condition and a potentially useful technique for assessing novel biomarkers in the early detection of sick MSUD.Further research is required regarding the relationship of these dysregulated metabolites to compromised pathways. |
| Institute | King Saud University |
| Department | Biochemistry |
| Laboratory | Clinical Biochemistry |
| Last Name | AlOtaibi |
| First Name | Abeer |
| Address | 2808 |
| 441203289@student.ksu.edu.sa | |
| Phone | +966551933703 |
| Submit Date | 2023-12-09 |
| Num Groups | 2 |
| Total Subjects | 28 |
| Num Males | 7 |
| Num Females | 7 |
| Raw Data Available | Yes |
| Raw Data File Type(s) | raw(Waters) |
| Analysis Type Detail | LC-MS |
| Release Date | 2024-04-29 |
| Release Version | 1 |
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Collection:
| Collection ID: | CO003283 |
| Collection Summary: | Twenty-eight DBS samples were collected from biochemically and genetically confirmed MSUD sick patients (n=14) at King Faisal Specialist Hospital and Research Center (KFSHRC) and healthy controls (n=14). These healthy individuals were almost age-sex matched with MSUD's group (Female 50%). Samples from newborn patients and controls less than 14 days were excluded from this study, as well as any IEM other than MSUD excluded. |
| Sample Type: | Blood (whole) |
| Storage Conditions: | -80℃ |
