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Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease. 1986

J M Aerts, and W E Donker-Koopman, and M Koot, and J A Barranger, and J M Tager, and A W Schram

Glucocerebrosidase is present in considerable amounts in human urine. The enzyme is stable in concentrated urine for several days when stored at 0 degrees C. Like tissue glucocerebrosidase, the urinary enzyme is inhibited by conduritol B-epoxide and hydrolyses not only glucocerebroside but also the synthetic substrate 4-methyl-umbelliferyl-beta-D-glucoside. The enzyme is deficient in urine from patients with Gaucher disease (type 1). It is possible to discriminate completely between patients with type 1 Gaucher disease and control subjects by measuring the ratio glucocerebrosidase/beta-hexosaminidase in urine. The value of this ratio (mean +/- SE) with the synthetic substrates 4-methylumbelliferyl-beta-glucoside and p-nitrophenyl-beta-N-acetylglucosaminide, respectively, was 34.2 +/- 3.7 (n = 24) in the controls and 2.1 +/- 0.9 (n = 21) in the patients.

UI MeSH Term Description Entries
D007294 Inositol An isomer of glucose that has traditionally been considered to be a B vitamin although it has an uncertain status as a vitamin and a deficiency syndrome has not been identified in man. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1379) Inositol phospholipids are important in signal transduction. Myoinositol,Chiro-Inositol,Mesoinositol,Chiro Inositol
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
D005260 Female Females
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
D005959 Glucosidases Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-. Glucosidase
D005960 Glucosides A GLYCOSIDE that is derived from GLUCOSE. Glucoside
D005962 Glucosylceramidase A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. Glucocerebrosidase,Acid beta-Glucosidase,Glucocerebroside beta-Glucosidase,Glucosyl Ceramidase,Glucosylceramide beta-Glucosidase,Glucosylsphingosine Glucosyl Hydrolase,beta-Glucocerebrosidase,Acid beta Glucosidase,Ceramidase, Glucosyl,Glucocerebroside beta Glucosidase,Glucosyl Hydrolase, Glucosylsphingosine,Glucosylceramide beta Glucosidase,Hydrolase, Glucosylsphingosine Glucosyl,beta Glucocerebrosidase,beta-Glucosidase, Acid,beta-Glucosidase, Glucocerebroside,beta-Glucosidase, Glucosylceramide
D006596 Hexosaminidases Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases

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