Evaluating the Combined Utility of MRI and Genetic Biomarkers in the Diagnosis of Neurometabolic Disorders: A Cross-Disciplinary Approach

Authors: Rania A. Sharaf, Abdullah M. Alenazi, Amer S. Alhumaidan, Ahmed A. Shareefi, Ali A. Almalki

DOI: https://doi.org/10.5281/zenodo.13927308

Short DOI: https://doi.org/g8dvw9

Country: Saudi Arabia

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Abstract: Background: Neurometabolic disorders are challenging to diagnose due to their overlapping clinical and imaging features with other neurological conditions. This study aimed to evaluate the diagnostic accuracy of combining Magnetic Resonance Imaging (MRI) findings with genetic and metabolic biomarkers in diagnosing neurometabolic disorders in a tertiary hospital setting.

Methods: A cross-sectional study of 110 patients suspected of neurometabolic disorders was conducted. Each patient underwent MRI and genetic/metabolic testing. MRI findings were analyzed for abnormalities, and genetic testing focused on next-generation sequencing, while metabolic assays measured enzyme levels and toxic metabolites. Diagnostic accuracy, sensitivity, specificity, and the correlation between MRI findings and biomarker results were analyzed.

Results: MRI alone showed a sensitivity of 93.3% and specificity of 57.1%. Genetic/metabolic testing alone had a sensitivity of 78.6% and specificity of 87.5%. Combining both modalities increased diagnostic sensitivity to 95.2% and specificity to 92.9%. The combined approach reduced the average time to diagnosis from 8 weeks to 4 weeks.

Conclusion: Integrating MRI with genetic/metabolic biomarkers significantly improves the diagnostic accuracy and reduces time to diagnosis for neurometabolic disorders. This combined approach offers a more comprehensive diagnostic tool for clinicians and enhances clinical decision-making in complex cases.

Keywords: Neurometabolic disorders, MRI, genetic testing, metabolic biomarkers, diagnosis, tertiary hospital

Paper Id: 231347

Published On: 2013-09-04

Published In: Volume 1, Issue 1, September-October 2013

Cite This: Evaluating the Combined Utility of MRI and Genetic Biomarkers in the Diagnosis of Neurometabolic Disorders: A Cross-Disciplinary Approach - Rania A. Sharaf, Abdullah M. Alenazi, Amer S. Alhumaidan, Ahmed A. Shareefi, Ali A. Almalki - IJIRMPS Volume 1, Issue 1, September-October 2013. DOI 10.5281/zenodo.13927308

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