Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies.
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.


CONCLUSIONS
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.
Brady
R O
RO
Developmental and Metabolic Neurology Branch, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892-1260, USA. BradyR@ninds.nih.gov
D000795:Fabry Disease / Q000503:physiopathology* / Q000628:therapy*; D005776:Gaucher Disease / Q000503:physiopathology* / Q000628:therapy*; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D015678:Viral Structural Proteins; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use
D015678:Viral Structural Proteins; C434023:tegument protein VP22, bovine herpesvirus 1; D000519:alpha-Galactosidase; D005962:Glucosylceramidase