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This Concept Map, created with IHMC CmapTools, has information related to: gaucher disease, cerebrosides to ceramide, 4 y/o girl underwent lab testing, heterozygous father with IVS2+1g--> A allelic variant, genetic/family Hx of heterozygous father, amino acid substitution on band q21 of long arm of chromosome 1, serum glucocerebrosidase which catalyses the conversion of cerebrosides, clinical blood work the results of which included reduced platelets, serum glucocerebrosidase which manifests as Gaucher Disease, macrophages which phagocytise damaged RBCs and WBCs, WBC beta- glucosidase assay the results of which indicated 81% reduction in beta-glucosidase activity, 81% reduction in beta-glucosidase activity which, in combination, suggest Gaucher Disease, genetic/family Hx of heterozygous mother, 4 y/o girl presenting with repeated bruising, Gaucher deposits which are a subtype of macrophages, macrophages the destruction of which causes increased serum acid phosphatase, Gaucher deposits which, in the bone marrow, N370S allelic variant causes an amino acid substitution, serum glucocerebrosidase which causes glucocerebroside accumulation in the lysosomes of various tissues, normal hematopoietic tissue resulting in weakening of trabecular bone, spleen manifests as hepatosplenomegaly