Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency. Accumulation of globotriaosylceramide affects vascular endothelium, peripheral nerves, and renal tissue. Neurologically, patients present with neuropathic pain, small-fiber neuropathy, and cerebrovascular complications. Diagnosis is confirmed via enzyme assay and genetic testing. Management includes enzyme replacement therapy or chaperone therapy; prognosis depends on early initiation of treatment and organ involvement.