ISSN:
1420-9071
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract Gaucher disease is the most common glycolipid storage disease. Type I, the most common form of the disease, is characterised by enlargement of the liver, and spleen and bone lesions. In the rare type II and type III forms of the disorder, central nervous system involvement is present as well. The disease results from a deficiency of the lysosomal enzyme glucocerebrosidase, which is needed for the enzymatic degradation of complex lipids, globosides and gangliosides. In the absence of sufficient glucocerebrosidase activity, the catabolic product glucocerebroside accumulates.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01931089
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