Fabry's disease

Fabry's disease is an X-linked metabolic disorder caused by a deficiency of a-galactosidase A. The enzyme defect leads to the systematic accumulation of glycosphingolipids throughout the body. The disease is characterized by angiokeratoma, hypohidrosis, corneal and lenticular opacities, acroparesthesia and vascular disease of the kidney, heart and brain. The diagnosis of affected males is mainly based on clinical findings and the level of a-galactosidase A. Since the full length cDNA and genomic sequences encoding human a-galactosidase A have been isolated, the precise lesion in the a-galactosidase A gene can be identified. Morbidity and mortality are mainly predominated by the progressive renal, cardiac, and cerebral involvement of the disease. Treatment is still supportive and non-specific, but at present there are trials of a-galactosidase A replacement therapy.