Agalsidase alfa therapy for Fabry disease

Fabry disease is a lysosomal storage disorder that results in neuropathic pain, progressive renal dysfunction, cardiomyopathy and stroke in affected individuals. The disease is caused by mutations in the GLA gene coding for α galactosidase A. The resulting deficiency of this enzyme causes accumulati...

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Bibliographic Details
Published inExpert review of endocrinology & metabolism Vol. 2; no. 2; pp. 147 - 154
Main Authors Sirrs, Sandra M, Clarke, Joe TR
Format Journal Article
LanguageEnglish
Published London Informa Healthcare 01.03.2007
Taylor & Francis
Subjects
agalsidase alfa
enzyme replacement therapy
Fabry disease
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Summary:Fabry disease is a lysosomal storage disorder that results in neuropathic pain, progressive renal dysfunction, cardiomyopathy and stroke in affected individuals. The disease is caused by mutations in the GLA gene coding for α galactosidase A. The resulting deficiency of this enzyme causes accumulation of neutral glycosphingolipids in various tissues. Recombinant human agalsidase alfa has been developed to treat patients with Fabry disease. Preliminary data on this form of enzyme replacement therapy suggest that it improves pain, stabilizes renal function and improves cardiac hypertrophy in some patients. More data are needed on the ability of this therapy to prevent cardiac events, stroke and death.
ISSN:1744-6651
1744-8417
DOI:10.1586/17446651.2.2.147