title: Update on role of agalsidase alfa in management of Fabry disease.
abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women. The manifestations of this heterogeneous disease are multisystemic and progressive. Prior to the development of enzyme replacement therapy, the management and treatment for Fabry disease was largely nonspecific and supportive. Because enzyme replacement therapy became commercially available in 2001, a variety of clinical benefits in Fabry patients have been consistently reported, including improved renal pathology and cardiac function, and reduced severity of neuropathic pain and improved pain-related quality of life. This update focuses on published data on the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa, and gives a brief overview on some of the outstanding management issues in the treatment of this complex disease.
authors.affiliation: Paediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UK. uma.ramaswami@addenbrookes.nhs.uk
authors.forename: Uma
authors.initials: U
authors.lastname: Ramaswami
mesh_terms: D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000188:drug therapy*; D006801:Humans; D007527:Isoenzymes / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use; D011994:Recombinant Proteins / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase; C459420:agalsidase beta