Molecular Properties of Lysosomal Glucocerebrosidase View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1988

AUTHORS

S. Van Weely , J. M. F. G. Aerts , M. Van Leeuwen , M. E. Peterson , J. Goldblatt , J. M. Tager , J. A. Barranger , A. W. Schram

ABSTRACT

In Gaucher disease the membrane-associated lysosomal enzyme glucocerebrosidase is deficient (1). Three clinical phenotypes of Gaucher disease are discriminated: type 1, the adult non-neuronopathic form, type 2, the infantile neuronopathic form and type 3, the juvenile neuronopathic form (1). In all phenotypes of the disease there is usually a massive accumulation of lipid in the spleen, and so-called Gaucher cells (macrophages with a characteristic morphology) are abundant in bone marrow, lymph nodes, spleen and liver (1). In all phenotypes, the deficiency of glucocerebrosidase is found in all tissues and also in cultured cells. The disease has a high incidence in certain population groups, representing one of the more frequently occurring genetic diseases (1). More... »

PAGES

51-56

Book

TITLE

Lipid Storage Disorders

ISBN

978-1-4612-8300-3
978-1-4613-1029-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4613-1029-7_5

DOI

http://dx.doi.org/10.1007/978-1-4613-1029-7_5

DIMENSIONS

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