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Gaucher Disease

More information in Books or onNLM PubMed
Definition: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.     
See Also Glucosylceramidase 		Other names Neuronopathic Gaucher Disease; Glucosylceramide Beta-Glucosidase Deficiency Disea; Glucocerebrosidase Deficiency Disease; Gaucher Disease Type 2; Gaucher Disease Type 1; Cerebroside Lipidosis Syndrome; Gauchers Disease; Disease, Glucocerebrosidase Deficiency; Disease, Gaucher's; Disease, Gaucher; Disease, Chronic Gaucher; Deficiency, Glucocerebrosidase; Deficiency, Acid beta-Glucosidase; Deficiency Diseases, Glucocerebrosidase; Deficiency Disease, Glucocerebrosidase; Deficiencies, Glucocerebrosidase; Deficiencies, Acid beta-Glucosidase; Cerebroside Lipidosis Syndromes; Acid beta-Glucosidase Deficiencies; Acid beta Glucosidase Deficiency Disease
 
SubstanceCAS Registry & nameCategoriesSource
Gaucher-like disease  0   *Gaucher Disease.
Acute cerebral Gaucher disease  0   *Gaucher Disease.
imiglucerase  EC 3.2.1.-   *Glucosylceramidase Gaucher Disease Recombinant Proteins. Ann Intern Med 1995 Jan 1;122(1):33-9CEREZYME
alglucerase  EC 3.2.1.-   *Glucosylceramidase Gaucher Disease Enzyme Replacement Therapy. Med Lett Drugs Ther 1991;33(851):82CEREDASE
miglustat  0   1-Deoxynojirimycin/*analogs & derivatives Gaucher Disease alpha-Glucosidases/antagonists & inhibitors.
Pharma Action Enzyme Inhibitors ; Anti-HIV Agents 		Am Fam Physician 1989;39(6):330ZAVESCA

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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