[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Harefuah
; 162(6): 344-351, 2023 Jun.
Article
in He
| MEDLINE
| ID: mdl-37394435
ABSTRACT
INTRODUCTION:
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Metabolism, Inborn Errors
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
He
Journal:
Harefuah
Year:
2023
Document type:
Article
Affiliation country: