F

Abstract

Fabry’s disease is a rare X-linked disorder, linked to chromosome Xq22.1, due to α-galactosidase A deficiency, which results in the accumulation of glycosphingolipids, specifically ceramidetrihexoside (also known as globotriaosylceramide or Gb₃), in most visceral tissues and body fluids, especially the lysosomes of the vascular endothelium, hence this is a lysosomal storage disorder. It is a multisystem disorder affecting skin, eyes, heart and circulation, kidneys, gastrointestinal tract, respiratory tract, and bone, as well as the peripheral, central, and autonomic nervous systems. Patients typically present in childhood and adolescence with characteristic skin lesions, angiokeratomas, and intermittent lancinating pains or dysesthesias in the limb. Heterozygote females may be asymptomatic or exhibit some symptoms and signs of the disease if they have partial deficiency of α-galactosidase. Diagnosis is by assay of enzyme activity in white cells.