Metabolomics and Biomarker Discovery and Evaluation: The New Frontier in the Screening, Diagnosis and Therapeutic Monitoring of Inborn Errors of Metabolism

Dear Colleagues,

Inborn errors of metabolism (IEMs) are a wide group of monogenic disorders caused by defects in genes coding for proteins involved in various metabolic pathways, which often lead to the accumulation of abnormal metabolites in tissues and different body fluids. IEMs commonly manifest during infancy and early childhood with progressive debilitating features, and are considered a substantial social and financial challenge for many health care authorities all over the world. Most IEMs are rare, ultrarare or orphan disorders, and this together with the absence of routine genetic and biochemical diagnosis for these disorders in many parts of the world means that patients can pass undiagnosed until serious and irreversible sequalae occur. Furthermore, dependable biomarkers that can be used for severity scoring and therapeutic monitoring are still lacking for many IEMs, hindering the application of new therapeutic approaches in clinical trials. Recent advances in metabolomics have allowed for the identification of many novel metabolites that can serve as disease biomarkers for these disorders.

In this Special Issue of Metabolites we welcome research proposals which include but are not limited to the following topics:

• Metabolomics techniques and approaches for clinical purposes;
• Targeted vs. untargeted metabolomics in inborn errors of metabolism;
• Biomarker discovery and validation for the screening and diagnosis of inborn errors of metabolism;
• Biomarker discovery and validation for the therapeutic monitoring of inborn errors of metabolism;
• Phenotype correlation with novel biomarkers in inborn errors of metabolism;
• Genotype correlation with novel biomarkers in inborn errors of metabolism;
• Genetics vs. metabolomics for the screening of inborn errors of metabolism.

Dr. Mohamed A. Elmonem
Guest Editor

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