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Article

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal of inherited metabolic disease - 1 Jul 2026

Kuchar Ladislav, Dvorakova Lenka, Berna Linda, Reboun Martin, Slavikova Petra, Bakalar Radovan, Ledvinova Jana, Poupetova Helena, Ruzicka Petr, Befekadu Asfaw, Dostalova Gabriela, Reichmannova Stella, Linhart Ales, Sikora Jakub

Abstract excerpt

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disorder caused by deficient activity of lysosomal alpha-galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation of Gb3. Specific (AGALopathic) GLA variants have been recently shown...

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Identifiers

PMID: 42324896
DOI: 10.1002/jimd.70218
PMCID: PMC13284639

Genes

GLA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.PMID 42324896Read ↗

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