ArticleJournal of inherited metabolic disease2016
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 42 citations in OpenAlex.
- Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment.Molecular genetics and metabolism · 2026Article
- Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.American journal of medical genetics. Part A · 2026Review
- Metabolic Signatures of Acinetobacter baumannii and Klebsiella pneumoniae Infections in Acute-on-chronic Liver Failure.Cellular and molecular gastroenterology and hepatology · 2026Article
- Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Development and characterization of a Drosophila model of Snyder-Robinson syndrome.Methods in enzymology · 2025Article
- Alterations in serum metabolomics during the first seizure and after effective control of epilepsy.Scientific reports · 2024Article
- Structural Insights into the Mechanisms Underlying Polyaminopathies.International journal of molecular sciences · 2024Review
- Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.Cell death & disease · 2024Article
- Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.Nature communications · 2023Article
- Missing data in multi-omics integration: Recent advances through artificial intelligence.Frontiers in artificial intelligence · 2023Review
- Histone deacetylase-10 liberates spermidine to support polyamine homeostasis and tumor cell growth.The Journal of biological chemistry · 2022Article
- Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells.JCI insight · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Maternal mosaicism for a missense variant in theCold Spring Harbor molecular case studies · 2021Article
- Circulating Metabolites as Potential Biomarkers for Neurological Disorders-Metabolites in Neurological Disorders.Metabolites · 2020Article
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.International journal of molecular sciences · 2020Article
- The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.European journal of human genetics : EJHG · 2019Article
- Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.Metabolites · 2019Article
- Polyamine Homeostasis in Snyder-Robinson Syndrome.Medical sciences (Basel, Switzerland) · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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