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Glucocerebrosidase (Gaucher disease)

โœ Scribed by Ernest Beutler; Terri Gelbart

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
597 KB
Volume
8
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but are free of neurological involvement.

Types I1 (MIM 230900) and 111 (MIM 2310000), the acute infantile and juvenile forms, respectively, of Gaucher disease, are characterized by the fact that the central nervous system is affected.

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## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2

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## To the Editor: Gaucher disease results from an inherited deficiency of the lysosomal enzyme glucocerebrosidase . Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type I Gaucher disease is the