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Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
Author(s) -
Brady RO
Publication year - 2003
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2003.tb00215.x
Subject(s) - fabry disease , enzyme replacement therapy , medicine , lysosomal storage disease , lysosomal storage disorders , genetic enhancement , disease , pathophysiology , substrate reduction therapy , abnormality , gaucher's disease , intensive care medicine , glucocerebrosidase , enzyme deficiency , bioinformatics , pathology , gene , enzyme , psychiatry , genetics , biology , biochemistry , chemistry
Over the past 40 years there has been remarkable development in our understanding of the pathophysiology of lysosomal storage disorders. This review describes the research carried out on the sphingolipid storage disorders from the first demonstration of the underlying metabolic abnormality in Gaucher disease to the development of enzyme replacement therapy for Gaucher and Fabry diseases. Initial developments in gene therapy are also described. Conclusion : The introduction of enzyme replacement therapy has provided a lifeline for patients with Gaucher or Fabry disease. It is anticipated that future developments, including gene therapy, will provide additional therapeutic options.