Adult form of Fabry disease

Abstract:

Anderson Fabry disease is a metabolic lysosomal storage disorder. This X-chromosome-linked deficiency of alpha-galactosidase A causes subsequent accumulation of glycosphingolipids, primarily globotriaosylceramide (GL3) in various tissues. Male patients with classical Fabry disease develop symptoms – usually pain and hypohydrosis – by their early twenties. Progression of disease leads to severe kidney, heart and central nervous system complications, which are the main cause of morbidity and premature mortality. In heterozygous women, the disease may be as severe as in men, but these women may also remain asymptomatic. Chronic enzyme replacement therapy slows down the progression of the disease and development of kidney, heart end cerebrovascular complications and death. Therapeutic intervention before irreversible organ damage occurs may provide greater clinical benefit

Key words:
agalsidase beta; alpha-galactosidase; Fabry disease; globotriaosylceramide; lysosomal storage diseases