AI Article Synopsis
- Inborn-Errors of Metabolism (IEM) are genetic disorders caused by mutations in genes related to metabolic pathways, with some lacking specific biochemical markers.
- Integrating next-generation sequencing (NGS), especially whole exome sequencing (WES), into IEM diagnostics enhances accuracy, supports genetic counseling, and broadens treatment options.
- For example, supplementing amino acids has shown positive effects on patients with deficiencies in aminoacyl-tRNA synthetases (ARSs), improving both biochemical and clinical outcomes.
Article Abstract
Inborn-Errors of Metabolism (IEM) are genetic disorders resulting from mutations in genes encoding proteins involved in biochemical-metabolic pathways. However, some IEMs lack specific biochemical markers. Early incorporation of next-generation-sequencing (NGS) including whole exome sequencing (WES) into the diagnostic algorithm of IEMs herein provided, increases diagnostic accuracy, permits genetic counseling and improves therapeutic options. This is exemplified by diseases affecting aminoacyl-tRNA synthetases (ARSs), enzymes involved in protein translation. Recent studies showed that supplementing amino-acids to cell-culture and patients with ARSs deficiencies resulted in improvement of biochemical and clinical parameters, respectively.
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