Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.

Autor:	Civelek-Ürey B; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Kasapkara CS; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey.; Department of Pediatric Metabolism, Ankara Yildirim Beyazit University, Ankara, Turkey., Biberoğlu G; Department of Pediatric Metabolism, Gazi University Faculty of Medicine, Ankara, Turkey., Öktem RM; Department of Pediatric Metabolism, Gazi University Faculty of Medicine, Ankara, Turkey., Gunduz M; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Kıreker-Köylü O; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Yürek B; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Bilginer Gürbüz B; Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Tumer L; Department of Pediatric Metabolism, Gazi University Faculty of Medicine, Ankara, Turkey.
Jazyk:	angličtina
Zdroj:	Klinische Padiatrie [Klin Padiatr] 2024 Sep 25. Date of Electronic Publication: 2024 Sep 25.
DOI:	10.1055/a-2343-5616
Abstrakt:	Lysosomal storage disorders (LSD) are a group of inherited inborn metabolism errors that are characterized by a deficiency in the lysosomal enzyme. In patients with suspected lipid storage disorders, confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and molecular genetic studies. New approaches to the measurement of lysosphingolipids have been developed that may serve as a rapid first-tier screening tests for the evaluation of lysosomal storage disorders. The present study evaluates the results of lysosphingolipid screening tests in patients with suspected lysosomal storage diseases. Lysosphingolipid elevation was detected in five patients examined with suspected lysosomal storage disease, and a definitive diagnosis was reached based on genetic analysis. Our data support recent evidence of the primary role of LysoSLs in the diagnosis of sphingolipidosis, and suggest that these biomarkers may be used for diagnosis and treatment monitoring in the future. Competing Interests: The authors declare that they have no conflict of interest. (Thieme. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu