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Academia Mexicana de Neurología, A.C.

2007, Number 3

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Rev Mex Neuroci 2007; 8 (3)

Neuronopathic type III Gaucher disease. Literature review and presentation of a case treated with human recombinant enzyme

Llamosa GVGL, Navarrete MJI, Rivera SI, Vicuña GRM

Language: Spanish
References: 36
Page: 261-273
PDF size: 346.99 Kb.


ABSTRACT

Background: Gaucher disease is the most prevalent metabolic storage disorder. It was first described in 1882, in a 32 year old lady with chronic progressive hepatosplenomegaly by Dr. Ernest Philippe Gaucher. In 1934 glucocerebroside was identified as the material stored in the spleen of some more patients. In 1965 Brady found the defect due to the deficiency of the lysosomal enzyme glucocerebrosidase that normally helps to break down lipid glucocerebroside, a membrane component of leukocytes and erythrocytes. In Gaucher disease, this glucocerebroside lipid is stored in the lysozymes of the reticuloendothelial cells, these lipid laden macrophages are called the Gaucher cells, in addition to the spleen, and the bone marrow are present in the liver, in the bone, in the lungs, etc. accounting for the multi-organ involvement of the disease. Its early diagnosis is very important in order to prevent damage, since nowadays we have the recombinant enzyme. In the present article we search for the bibliography about subacute and chronic neuronopathic Gaucher disease, and also we present a clinic case.


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