Fabry disease is a rare hereditary lysosomal storage disorder that is caused by mutation in the GLA gene located on the X chromosome. The defect leads to the deficiency of an enzyme called alpha-galactosidase A, responsible for the breakdown of globotriaosylceramide (Gb3). The accumulation of the fatty substance leads to systemic complications in multiple systems of the body including skin, eyes, heart, and kidneys. The condition presents with dermatological manifestation in its early stages but progresses to develop cardiovascular issues resulting in arrhythmias, heart failure, and attacks at a later point in time.
Fabry Disease: Epidemiology and Statistics
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