Summary of project PR001644

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, where it has been assigned Project ID PR001644. The data can be accessed directly via it's Project DOI: 10.21228/M86F07 This work is supported by NIH grant, U2C- DK119886.


Project ID: PR001644
Project DOI:doi: 10.21228/M86F07
Project Title:Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots
Project Type:newborn screening
Project Summary:Galactosemia (GAL) is an autosomal recessive genetic disorder characterized by galactose metabolism disturbances. GAL develops non-preventable life-threatening complications even with a reduced content of galactose and lactose patient’s diet. Thus, the underlying pathophysiology of long-term complications in GAL remains poorly understood. The current study used a metabolomics approach using ultra-performance liquid chromatography coupled with high-resolution mass spectrometry to investigate the metabolomic changes in the dried blood spots of 15 patients with GAL and 39 healthy individuals. Compared to the control group, 2,819 metabolites underwent significant changes in patients with GAL. In all, 480 human endogenous metabolites were identified, of which 209 and 271 were upregulated and downregulated, respectively. PA (8:0/LTE4) and ganglioside GT1c (d18:0/20:0) metabolites showed the most significant difference between GAL and the healthy group, with an area under the curve of 1 and 0.995, respectively. Additionally, our findings showed novel potential biomarkers for GAL, such as 17-alpha-estradiol-3-glucuronide and 16-alpha-hydroxy DHEA 3-sulfatediphosphate. In conclusion, this metabolomics study deepened the understanding of the pathophysiology of GAL and presented metabolites that might serve as potential prognostic biomarkers to monitor the progression or support the clinical diagnosis of GAL.
Institute:King Saud University
Last Name:AlMalki
First Name:Reem
Address:King Fahad road, Riyadh, KSA, 00000, Saudi Arabia

Summary of all studies in project PR001644

Study IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)
(* : Contains raw data)
ST002552 Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots Homo sapiens King Saud University MS* 2023-04-24 1 54 Uploaded data (87.4G)*