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Gaucher's disease is an autosomal recessive inherited disorder, characterized by genetic deficiency of lysosomial glucocerebrosidase. Its substrate (glycosylceramide) subsequently accumulates in cells of monocyte/macrophage origin, resulting in enlargement of the spleen and liver, skeletal lesions, and, in the most severe phenotypes, in neurological disorders. Thirty-six mutations have been at present documented in the gene encoding for the glucocerebrosidase, but four of them (N370S, L444P, 84GG and IVS2+1) are really frequent, particularly in ashkenaze population. Gaucher's disease is diagnosed by the presence of Gaucher cells, especially in bone marrow aspirate, and by assessing the glucocerebrosidase activity. The prognosis has been considerably improved by enzyme replacement therapy.
PMID: 7652229 [PubMed - indexed for MEDLINE]