Abstract: A biochemical study of three patients with clinical symptoms of Gaucher disease wascarried out. Two of them had a significant deficiency of b-glucocerebrosidaseactivity (a primary enzyme defect) in leukocytes and an enormous increasing ofchitotriosidase activity in blood plasma that confirmed the diagnosis of Gaucher disease.Some differences in stability of mutant enzymes were found in these two cases. Mutationanalysis revealed two point mutations - N370S and L444P in b-glucocerebrosidasegene of both patients. Correlation between clinical picture, peculiarities of enzymaticdefect and genetic status of patients is discussed. The influence of some epigeneticfactors on phenotypic manifestation of the disease is supposed.
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Reference: Beyer E.M., Bukina T.M., Tsvetkova I.V., Biochemical and genetic diagnosis of gaucher disease and phenotypic heterogeneity of the disease, Voprosy meditsinskoi khimii, 2000, vol: 46(5), 451-454.
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