Metabolomics to Screen and Diagnose Inborn Errors of Metabolism in Newborns
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: closed (31 October 2022) | Viewed by 2967
Special Issue Editor
Interests: newborn screening; metabolomics; proteomics; biomarker development; mass spectrometry
Special Issue Information
Dear Colleagues,
Many inborn errors of metabolism (IEM) are detected through newborn screening via mass spectrometry. Targeted metabolomics is the “gold standard” method used for measuring metabolites indicative of IEMs. Screening is primarily performed with dried blood spots, whereas confirmatory diagnosis uses urine and/or plasma. Currently, all newborns in the United States are screened for dozens of IEMs listed in the Recommended Uniform Screening Panel (RUSP). However, this number may soon increase. Dozens of metabolic disorders are candidates for RUSP inclusion, while hundreds more are the subject of treatment and therapeutic investigations.
Advances in mass spectrometry and bioinformatics have enabled IEM screening and diagnosis, as well as the discovery of new diagnostic markers using untargeted metabolomics. Interestingly, recent studies that have compared targeted and untargeted approaches have favored the use of untargeted metabolomics for IEM screening. Untargeted metabolomics may be able to further expand the number of disorders that are detected through newborn screening. It may also facilitate the diagnosis of symptomatic patients with rare IEMs who remain undiagnosed for several years.
This Special Issue is dedicated to the use of metabolomics for the screening and diagnosis of IEMs. Papers covering the following topics are warmly welcomed:
- Original research articles about clinical metabolomics;
- Case studies where metabolomics has helped to resolve diagnoses that were previously elusive;
- Discoveries of novel IEM diagnostic markers;
- Review articles on clinical metabolomics.
Dr. Konstantinos Petritis
Guest Editor
Manuscript Submission Information
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