Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship.
Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods of enzyme determination using various substrates are recommended for the detection of the gene carrier condition.
D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000235:genetics* / Q000503:physiopathology; D005817:Genetic Counseling; D005959:Glucosidases / Q000235:genetics*; D006529:Hepatomegaly; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013163:Splenomegaly; D001617:beta-Glucosidase / Q000235:genetics* / Q000378:metabolism
D005959:Glucosidases; D001617:beta-Glucosidase