Fabry disease

Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that lead to a deficiency of the enzyme alpha-galactosidase A Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that lead to a deficiency of the enzyme alpha-galactosidase A. This enzymatic defect results in progressive intracellular accumulation of globotriaosylceramide and related glycosphingolipids within vascul...

Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that lead to a deficiency of the enzyme alpha-galactosidase A Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that lead to a deficiency of the enzyme alpha-galactosidase A. This enzymatic defect results in progressive intracellular accumulation of globotriaosylceramide and related glycosphingolipids within vascul...

Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that lead to a deficiency of the enzyme alpha-galactosidase A. This enzymatic defect results in progressive intracellular accumulation of globotriaosylceramide and related glycosphingolipids within vascular endothelial cells and visceral tissues throughout the body Clinical manifestations typically include episodic neuropathic extremity pain, cutaneous angiokeratomas, hypohidrosis...

Clinical manifestations typically include episodic neuropathic extremity pain, cutaneous angiokeratomas, hypohidrosis, and corneal verticillata, which often emerge during childhood or adolescence If untreated, the condition can progress to life-threatening multisystem complications in adulthood, most notably cardiomyopathy, progressive renal impairment culminating in end-stage kidney disease, and early stroke