Diagnostic and Therapeutic Monitoring for Neurometabolic Disorders
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 (15 December 2023) | Viewed by 1398
Special Issue Editors
Interests: organic acidurias; disorders of B6 metabolism
Interests: metabolomics; diagnostics; malate aspartate shuttle; red blood cell metabolism
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neurometabolic disorders are a heterogenous group of conditions that result in neurological disease sequala, ranging from developmental delays to complex movement disorders and epilepsy. These conditions are often progressive and can be debilitating, highlighting the need for early diagnoses and improved treatment options. Diagnostic biomarkers are needed for many of these rare conditions, where clinical diagnosis may go unrecognized. Neurometabolic disorders are traditionally thought of as genetic conditions that result in the accumulation of abnormal metabolites which are often claimed to be neurotoxic. A growing number of therapeutic strategies have aimed to reduce these accumulating metabolites. Biomarkers which can augment genotype–phenotype correlations are critical to determine which patients benefit from treatment. Importantly, biomarkers associated with therapeutic monitoring are often lacking clinical trial endpoints.
In this Special Issue of Metabolites, we welcome proposals on, but not limited to, the following topics:
- Targeted and untargeted metabolomics in neurometabolic disorders;
- Biomarker discovery and validation for the diagnosis of neurometabolic disorders;
- Genotype–phenotype correlations with biomarkers in patients with neurometabolic disorders;
- Therapeutic monitoring for patients with neurometabolic disorders.
Dr. Curtis R. Coughlin II
Dr. J.J.M. (Judith) Jans
Guest Editors
Manuscript Submission Information
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Keywords
- neurometabolic disorders
- inborn errors of metabolism
- metabolomics
- biomarker discovery
- therapeutic monitoring
- genotype–phenotype correlation
