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Article

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.

International journal of molecular sciences - 9 May 2024

Duro Giovanni, Anania Monia, Zizzo Carmela, Francofonte Daniele, Giacalone Irene, D'Errico Annalisa, Marsana Emanuela Maria, Colomba Paolo

Abstract excerpt

Anderson-Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme α-galactosidase A. The GLA gene is located on the X-chromosome, causing an X-linked pathology: due to lyonization, female patients usually manifest a variable symptomatology, ranging from asymptomatic to severe phenotypes. The confirmation of the clinical diagnosis of Fabry disease, achieved by...

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Identifiers

PMID: 38791200
DOI: 10.3390/ijms25105158
PMCID: PMC11121337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.PMID 38791200Read ↗

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.Semantic proximity Read ↗

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

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.Semantic proximity Read ↗

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?Semantic proximity Read ↗

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A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.Semantic proximity Read ↗

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