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Fabry Disease
Loss of Function

Fabry Disease

  • Genotype

    GLA KO

  • Mechanism

    Loss of Function

  • Phenotype

    Hypoactivity, Thermal sensitivity, Sensory dysfunction, Motor coordination, Anxiety

  • Biomarker

    α-Galactosidase A, Endothelin-1, Creatinine, Troponin

  • Gene Expression Markers

    Gb3, LAMP1, TNF-α, TGF-β, eNOS, SOD1, TRPV1

  • Physiology Changes

    Endothelial dysfunction, Cardiac hypertrophy

  • Histology Grading Endpoint

    Glycosphingolipid Accumulation, Swollen endothelial cells, Podocyte vacuolation, Lipid accumulation

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