Biomaterial Database

Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease. 1980

L Svennerholm, and G Håkansson, and S Dreborg

Leukocytes were isolated from 14 patients (7 males and 7 females ) with Gaucher disease of the Norrbottnian type (Type 3), 32 obligate heterozygotes (16 males and 16 females) for this disease and 20 controls (10 males and 10 females). After collection, the cells were transported in dry ice to the laboratory, where they were assayed. The assays were repeated after the cells had been stored for 12 months. beta-Glucosidase activity was assayed with D-[glucose-U-14C]glucosylceramide at pH 5.8 with Cutscum-Na-cholate as a detergent and 4-methylumbelliferyl-beta-glucoside at pH 4.1 with Triton-Na-taurocholate as a detergent. The activities of two marker enzymes, 4-methylumbelliferyl-beta-galactosidase and N-acetyl-beta-glucosaminidase, were assayed in aliquots of the same leukocyte samples. The activity of beta-galactosidase remained constant during storage, N-acetyl-beta-glucosaminidase increased, while beta-glucosidase decreased as assayed with the natural as well as with the artificial substrate. beta-Glucosidase activity was significantly lower in the female than in male controls and heterozygotes. When assayed with natural substrate beta-glucosidase activity in leukocytes from the male patients was 6--12% of the control mean value and 10--15% in those from the female patients. The corresponding figures found when the artificial substrate was used were 15--30% and 22--45%. The values for the heterozygotes were respectively 42--68% and 34--79% with the natural substrate, and 33--82% and 51--109% with the artificial substrate. No correlation was found between the age of the patient and the beta-glucosidase activity.

UI	MeSH Term	Description	Entries
D007962	Leukocytes	White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).	Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004355	Drug Stability	The chemical and physical integrity of a pharmaceutical product.	Drug Shelf Life,Drugs Shelf Lives,Shelf Life, Drugs,Drug Stabilities,Drugs Shelf Life,Drugs Shelf Live,Life, Drugs Shelf,Shelf Life, Drug,Shelf Live, Drugs,Shelf Lives, Drugs
D005260	Female		Females
D005697	Galactosides	Glycosides formed by the reaction of the hydroxyl group on the anomeric carbon atom of galactose with an alcohol to form an acetal. They include both alpha- and beta-galactosides.
D005776	Gaucher Disease	An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.	Cerebroside Lipidosis Syndrome,Gaucher Disease Type 1,Gaucher Disease Type 2,Glucocerebrosidase Deficiency Disease,Glucosylceramide Beta-Glucosidase Deficiency Disease,Neuronopathic Gaucher Disease,Acid beta-Glucosidase Deficiency,Acid beta-Glucosidase Deficiency Disease,Acute Neuronopathic Gaucher Disease,Chronic Gaucher Disease,GBA Deficiency,Gaucher Disease Type 3,Gaucher Disease, Acute Neuronopathic,Gaucher Disease, Acute Neuronopathic Type,Gaucher Disease, Chronic,Gaucher Disease, Chronic Neuronopathic Type,Gaucher Disease, Infantile,Gaucher Disease, Infantile Cerebral,Gaucher Disease, Juvenile,Gaucher Disease, Juvenile and Adult, Cerebral,Gaucher Disease, Neuronopathic,Gaucher Disease, Non-Neuronopathic Form,Gaucher Disease, Noncerebral Juvenile,Gaucher Disease, Subacute Neuronopathic Form,Gaucher Disease, Subacute Neuronopathic Type,Gaucher Disease, Type 1,Gaucher Disease, Type 2,Gaucher Disease, Type 3,Gaucher Disease, Type I,Gaucher Disease, Type II,Gaucher Disease, Type III,Gaucher Splenomegaly,Gaucher Syndrome,Gaucher's Disease,Gauchers Disease,Glucocerebrosidase Deficiency,Glucocerebrosidosis,Glucosyl Cerebroside Lipidosis,Glucosylceramidase Deficiency,Glucosylceramide Beta-Glucosidase Deficiency,Glucosylceramide Lipidosis,Infantile Gaucher Disease,Kerasin Histiocytosis,Kerasin Lipoidosis,Kerasin thesaurismosis,Lipoid Histiocytosis (Kerasin Type),Non-Neuronopathic Gaucher Disease,Subacute Neuronopathic Gaucher Disease,Type 1 Gaucher Disease,Type 2 Gaucher Disease,Type 3 Gaucher Disease,Cerebroside Lipidoses, Glucosyl,Cerebroside Lipidosis Syndromes,Cerebroside Lipidosis, Glucosyl,Deficiencies, GBA,Deficiencies, Glucocerebrosidase,Deficiency Disease, Glucocerebrosidase,Deficiency Diseases, Glucocerebrosidase,Deficiency, GBA,Deficiency, Glucocerebrosidase,Disease, Chronic Gaucher,Disease, Gaucher,Disease, Gaucher's,Disease, Gauchers,Disease, Glucocerebrosidase Deficiency,Disease, Infantile Gaucher,Disease, Juvenile Gaucher,Disease, Neuronopathic Gaucher,Disease, Non-Neuronopathic Gaucher,Diseases, Gauchers,Diseases, Glucocerebrosidase Deficiency,GBA Deficiencies,Gaucher Disease, Non Neuronopathic Form,Gaucher Disease, Non-Neuronopathic,Gauchers Diseases,Glucocerebrosidase Deficiencies,Glucocerebrosidase Deficiency Diseases,Glucocerebrosidoses,Glucosyl Cerebroside Lipidoses,Glucosylceramide Lipidoses,Histiocytoses, Kerasin,Histiocytoses, Lipoid (Kerasin Type),Histiocytosis, Kerasin,Histiocytosis, Lipoid (Kerasin Type),Juvenile Gaucher Disease,Kerasin Histiocytoses,Kerasin Lipoidoses,Kerasin thesaurismoses,Lipidoses, Glucosyl Cerebroside,Lipidoses, Glucosylceramide,Lipidosis Syndrome, Cerebroside,Lipidosis Syndromes, Cerebroside,Lipidosis, Glucosyl Cerebroside,Lipidosis, Glucosylceramide,Lipoid Histiocytoses (Kerasin Type),Lipoidoses, Kerasin,Lipoidosis, Kerasin,Non Neuronopathic Gaucher Disease,Splenomegaly, Gaucher,Syndrome, Cerebroside Lipidosis,Syndrome, Gaucher,Syndromes, Cerebroside Lipidosis,thesaurismoses, Kerasin,thesaurismosis, Kerasin
D005944	Glucosamine		2-Amino-2-Deoxyglucose,Dona,Dona S,Glucosamine Sulfate,Hespercorbin,Xicil,2 Amino 2 Deoxyglucose,Sulfate, Glucosamine