Fabry disease

Fabry disease is a genetic x-inherited lysosomal disorder caused by mutation of GLA gen which results in deficiency of alfa galactosidase A enzyme. The result of enzymatic insufficiency is progressive storage of unmetabolized lipid –  globotriaozylceramide (Gb3), in different organs and tissues causing it’s dysfunction.

Early symptoms:

  • Burning pain in palms and soles;
  • Hypo-; anhidrosis;
  • Abdominal pain, diarrhea;
  • Angiokeratomas –  small reddish or violet exfoliations on the skin;
  • Corneal changes;
  • Tinnitus, hearing loss, attacks of dizziness;

Late manifestation of the disease:

  • Heart – hypertrophic cardiomyopathy, arrhythmias;
  • Renal disorders – ranging from protein excretion into urine to renal insufficiency;
  • Central nervous system – stroke, vertigo;

Additional information available at: