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.

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Study IDST002750
Study TitleA Comprehensive Metabolomics Profile for Newborns with Maple syrup urine disease
Study TypeUntargeted LCMS
Study SummaryBackground: 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
DepartmentBiochemistry
LaboratoryBiochemistry
Last NameAlotaibi
First NameAbeer
Address2808
Emailabeerotb12@gmail.com
Phone966551933703
Submit Date2023-05-29
Raw Data AvailableYes
Raw Data File Type(s)raw(Waters)
Analysis Type DetailLC-MS
Release Date2023-07-18
Release Version1
Abeer Alotaibi Abeer Alotaibi
https://dx.doi.org/10.21228/M88X3T
ftp://www.metabolomicsworkbench.org/Studies/ application/zip

Select appropriate tab below to view additional metadata details:

Project:

Project ID:PR001713
Project DOI:doi: 10.21228/M88X3T
Project Title:A Comprehensive Metabolomics Profile for Newborns with Maple syrup urine disease
Project Type:Untargeted LCMS
Project Summary:Investigation of MSUD’s distinctive profile in newborn MSUD patients using untargeted metabolomics
Institute:King Saud University
Department:Biochemistry
Laboratory:Biochemistry
Last Name:Alotaibi
First Name:Abeer
Address:2808
Email:abeerotb12@gmail.com
Phone:966551933703

Subject:

Subject ID:SU002857
Subject Type:Human
Subject Species:Homo sapiens
Taxonomy ID:9606
Age Or Age Range:</=14 days
Gender:Male and female
Human Inclusion Criteria:</=14 days, MSUD newborn DBS, Males and females
Human Exclusion Criteria:>14 days and any IEM's newborn other than MSUD, unknown gender
Species Group:Mammals

Factors:

Subject type: Human; Subject species: Homo sapiens (Factor headings shown in green)

mb_sample_id local_sample_id Sex Age_Days sample_type
SA28942118821169F 10 MSUD
SA28942221722019F 10 MSUD
SA28942321359910F 12 MSUD
SA28942421432000F 12 MSUD
SA28942520990701F 2 control
SA28942621323632F 3 MSUD
SA28942921756371F 5 control
SA28942721432578F 5 MSUD
SA28942821383148F 5 MSUD
SA28943021756797F 6 control
SA28943121903696F 6 control
SA28943221916609F 6 control
SA28943321915585F 6 control
SA28943421061334F 7 control
SA28943517943253F 8 MSUD
SA28943621309465F 8 MSUD
SA28943721916593F 9 control
SA28943821903669F 9 control
SA28944120882794M 10 control
SA28944220830861M 10 control
SA28943921439216M 10 MSUD
SA28944027192849M 10 MSUD
SA28944421751941M 11 control
SA28944317762490M 11 MSUD
SA28944521221237M 12 MSUD
SA28944621918555M 13 control
SA289447154124M 16 control
SA28944820990589M 3 MSUD
SA28944921288205M 3 MSUD
SA28945121051744M 4 control
SA28945021439094M 4 MSUD
SA28945321915628M 5 control
SA28945420972893M 5 control
SA28945521915503M 5 control
SA28945221917361M 5 MSUD
SA28945621483280M 6 MSUD
SA28945718725627M 6 MSUD
SA28945921812002M 7 control
SA28945820649047M 7 MSUD
SA28946017981165M 8 control
SA28946321798030M 9 control
SA28946419839244M 9 control
SA28946118097694M 9 MSUD
SA28946220741664M 9 MSUD
Showing results 1 to 44 of 44

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℃

Treatment:

Treatment ID:TR002866
Treatment Summary:No treatment used

Sample Preparation:

Sampleprep ID:SP002863
Sampleprep Summary:Briefly, one punch, a size 3.3 mm, DBS from MSUD newborn and healthy controls and were distributed in 96 V-shaped plate wells then immersed with 250 μL of Extraction solvent (Water: MeOH: ACN) [20:40:40%]. The samples were vortexed in thermomixer (Eppendrof, Germany) at 600 rpm, 25 ˚C, for 2hrs. The samples were spun down at 16.000 rpm, 4 ˚C, for 10 min. The supernatants were transferred into new 96 V-shaped plate and the punches discards, and then the samples were dried in a vacuum concentrator SpeedVac (Christ, City, Germany). Dry residue was re-dissolved in 100 μL of methanol/water with a ratio (1:1) earlier of LC-MS analysis.
Sampleprep Protocol Filename:Metabolites_extraction.docx
Extract Storage:Room temperature

Chromatography:

Chromatography ID:CH003349
Methods Filename:LC_MS_Metabolomics_MSUD.docx
Instrument Name:Waters Acquity UPLC
Column Name:Waters XSelect CSH C18 (100 x 2.1mm 2.5um)
Column Temperature:55
Flow Gradient:95–5% A [0–16 min], 5% A [16–19 min], 5–95% A [19–20 min], and 95–95% A [20–22 min].
Flow Rate:300 μL/min
Solvent A:0.1% formic acid: dH2O
Solvent B:0.1% formic acid: 50% MeOH and ACN
Chromatography Type:Reversed phase

Analysis:

Analysis ID:AN004461
Analysis Type:MS
Chromatography ID:CH003349
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST002750_AN004461_Results.txt
Units:Peak area
  
Analysis ID:AN004462
Analysis Type:MS
Chromatography ID:CH003349
Has Mz:1
Has Rt:1
Rt Units:Minutes
Results File:ST002750_AN004462_Results.txt
Units:Peak area
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