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Article

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2024

Kuchar Ladislav, Berna Linda, Poupetova Helena, Ledvinova Jana, Ruzicka Petr, Dostalova Gabriela, Reichmannova Stella, Asfaw Befekadu, Linhart Ales, Sikora Jakub

Abstract excerpt

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease resulting from pathogenic variants in the GLA gene coding α-galactosidase A (AGAL) and cleaving terminal alpha-linked galactose. Globotriaosylceramide (Gb3) is the predominantly accumulated sphingolipid. Gb3, deacylated-Gb3 (lysoGb3), and methylated-Gb3 (metGb3) have been suggested as FD biomarkers. MATERIALS AND METHODS: We developed a novel...

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PMID: 38906396
DOI: 10.1016/j.cca.2024.119824

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