Fabry’s disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to a deficiency in alpha-galactosidase A.

Early identification and initiation of enzyme replacement therapy is the key for improvement in the affected organs with decreased cardiac hypertrophy and stabilization of kidney function, and improvement in neuropathic pain, gastrointestinal symptoms, hearing loss and respiratory symptoms. Adjuvant therapy is required in those with some degree of organ dysfunction.