Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson‐Fabry Disease

Abstract excerpt

Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosomes of different types of cells of the heart, kidneys, skin, eyes,...

Topics

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• alpha-Galactosidase
• Enzyme Inhibitors
• Enzyme Replacement Therapy
• Fabry Disease
• Lysosomal Storage Disorders Research
• Molecular Probes
• Mutation
• Phenotype

Identifiers and source

Literature Corpus work

2821c611-1cfd-5a07-a25b-862756521403

DOI

10.20944/preprints202308.1540.v1