N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics
Open accessAbstract
Clinical metabolomics has emerged as a powerful tool to study human metabolism in health and disease. Comparative statistical analysis of untargeted metabolic profiles can reveal perturbations of metabolite levels in diseases and thus has the potential to identify novel biomarkers. Here we have applied a simultaneous genetic-metabolomic approach in twin boys with epileptic encephalopathy of unclear etiology. Clinical exome sequencing identified a novel missense mutation in the spermine synthase gene (SMS) that causes Snyder-Robinson syndrome (SRS). Untargeted plasma metabolome analysis revealed significantly elevated levels of N(8)-acetylspermidine, a precursor derivative of spermine biosynthesis, as a potential novel plasma biomarker for SRS. This result was verified in a third patient with genetically confirmed SRS. This study illustrates the potential of metabolomics as a translational technique to support exome data on a functional and clinical level.
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A study to identify biomarkers for Snyder Robinson syndrome obtained data on 16 patients, only three of which presented with the disorder of interest.
“For example, a study to identify biomarkers for Snyder Robinson syndrome, a rare neurological disorder, obtained data on 16 patients, only three of which presented with the disorder of interest (Abela et al., 2015).”
From Missing data in multi-omics integration: Recent advances through artificial intelligence (2023) · cites this paper as Abela et al., 2015
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- Authors
- Abela, L., Simmons, L., Steindl, K., Schmitt, B., Mastrangelo, M., Joset, P., Papuc, M., Sticht, H., Baumer, A., Crowther, L. M., Mathis, D., Rauch, A., & Plecko, B.
- Affiliations
- University of Zurich (CH)
- Ospedale dei Bambini Vittore Buzzi (IT)
- Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Steinwiesstrasse 75 Zurich 8032 Switzerland
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University Children's Hospital Zurich (CH)
- Corresponding author
- Plecko, Barbara
- ORCID
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2015-07-15
- Volume
- 39
- Issue
- 1
- Pages
- 131-137
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1580029308
- Cited by
- 43
- References
- 29
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 1 · 2020: 6 · 2019: 3 · 2018: 8 · 2017: 3 · 2016: 3
- FWCI
- 3.86
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Polyamine Metabolism and Applications
- Keywords
- Snyder-Robinson syndrome, N8-acetylspermidine, plasma biomarkers, spermine synthase, missense mutations, epileptic encephalopathy
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Pedigree, Plasma, Spermidine, Spermine Synthase, Biomarkers, Case-Control Studies, Mutation, Missense, X-Linked Intellectual Disability, Metabolomics, Metabolome, Exome
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