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1.
Am J Med Genet A ; 136(1): 58-62, 2005 Jul 01.
Article in English | MEDLINE | ID: mdl-15937950

ABSTRACT

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosidase (beta-glucosidase) deficiency. Between January 1982 and October 2003, 1,081 blood samples from patients suspected of having GD were referred for biochemical analysis. The activities of the enzymes beta-glucosidase (beta-glu) and chitotriosidase (CT) were measured in these samples. Among the 412 diagnosed cases of GD (38.1%), the great majority were GD type 1. The Brazilian regions with the greatest concentration of these patients were the Southeast, South, and Northeast. The mean age of patients at diagnosis was 19 years. The activity of beta-glu in patients with GD was, on average, 10.7% of that of normal individuals. CT was, on average, 269 times more elevated in this group of patients. Among the 669 cases with no confirmation of GD, there were patients with Niemann-Pick disease types A, B, or C (44 cases), possible heterozygotes for GD (59 cases), patients with other lysosomal storage diseases (LSDs) (19 cases) or with other inborn errors of metabolism (3 cases). In 508 cases, no metabolic disorder was found. This study shows that the biochemical protocol employed was effective for the detection of GD, a disease that is reasonably frequent in Brazil.


Subject(s)
Gaucher Disease/enzymology , beta-Glucosidase/metabolism , Adolescent , Adult , Aged , Brazil , Child , Child, Preschool , Female , Gaucher Disease/diagnosis , Gaucher Disease/genetics , Gene Frequency , Genotype , Geography , Hexosaminidases/metabolism , Humans , Infant , Lysosomal Storage Diseases/diagnosis , Lysosomal Storage Diseases/enzymology , Male , Middle Aged , Mutation , Niemann-Pick Diseases/diagnosis , Niemann-Pick Diseases/enzymology , beta-Glucosidase/genetics
2.
Clin Chim Acta ; 343(1-2): 145-53, 2004 May.
Article in English | MEDLINE | ID: mdl-15115687

ABSTRACT

BACKGROUND: Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the accumulation of glucocerebrosides in macrophage lysosomes. No studies comparing the biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals and patients with Gaucher's disease are available. METHODS: We compared the activities of beta-glu and chitotriosidase between normal subjects and Gaucher disease patients, and characterized the behavior of beta-glu in terms of pH optimum, heat stability, Km and Vmax. RESULTS: The results showed a different behavior of the enzyme in the groups analyzed. CONCLUSIONS: This finding might be useful in cases in which the measurement of enzyme activity alone is not reliable for the establishment of the diagnosis of Gaucher's disease.


Subject(s)
Gaucher Disease/enzymology , beta-Glucosidase/metabolism , Case-Control Studies , Cells, Cultured , Enzyme Stability , Fibroblasts/enzymology , Hexosaminidases/metabolism , Homozygote , Hot Temperature , Humans , Hydrogen-Ion Concentration , Kinetics , Leukocytes/enzymology
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