Title: ENZYME REPLACEMENT THERAPY FOR FABRY DISEASE
Abstract: Fabry disease is an X-linked lysosomal storage disorder with an estimated incidence of 1 in 40 000 males. In 1973, Johnson and Brady showed that the infusion of purified alpha-galactosidase A (aGalA), derived from human placenta, rapidly cleared globotriaosylceramide (GL-3) from systemic circulation in patients with Fabry disease, however, technical complications prevented further development of enzyme replacement therapy (ERT) for Fabry disease until 2001 when recombinant aGalA became available for therapeutic use. ERT has limited effect in patients with cerebrovascular involvement, as the recombinant enzymes cannot penetrate the blood–brain barrier. Clinically, the development of an immune response is anticipated in a number of patients treated with any recombinant human proteins and is suggested to be more common, especially when the native protein is deficient or absent as is the case with many male patients with Fabry disease.
Publication Year: 2013
Publication Date: 2013-12-06
Language: en
Type: other
Indexed In: ['crossref']
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Cited By Count: 1
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