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Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. 1982

J J Hopwood, and H Elliott

1. The following radiolabelled disaccharides were prepared from heparin and evaluated as substrates for alpha-N-acetylglucosaminidase present in cultured skin fibroblasts: O-(alpha-3-acetamido-2-deoxy-D-glucopyranosyl)-(1 leads to 4)-L-[6,3H]idose (GlcNAc-Ido), O-(alpha-2-acetamido-2-deoxy-D-glucopyranosyl)-(1 leads to 4)-1,6 anhydro-L-[6,3H]idose (GlcNAc-anIdo), O-(alpha-2-acetamido-2-deoxy-D-glucopyranosyl)-(1 leads to 4)-L-[6,3H]idose 2-sulfate (GlcNAc-Ido(OS)), O-(alpha 2-acetamido-2-deoxy-D-glucopyranosyl)-(1 leads to 3)-L-[6,3H]idonic acid (GlcNAc-IdOA). 2. Alpha-N-Acetylglucosaminidase activity assessed with GlcNAc-IdOA was 12 times higher than the values obtained using GlcNAc-Ido, GlcNAc-anIdo and GlcNAc-Ido(OS). Less than 5% of normal activity resulted when these substrates were incubated with fibroblasts from Sanfilippo B patients. These results demonstrate that a C6 carboxyl group on the adjacent residue to the N-acetylglucosaminide moiety is an important structural requirement in the mechanism of action or binding of alpha-N-acetylglucosaminidase toward alpha-linked N-acetylglucosaminide residues. The presence of a C2 sulfate group on the adjacent residue had no effect on enzyme activity. 3. Alpha-N-Acetylglucosaminidase activity in leucocyte and fibroblast homogenates assayed using GlcNAc-IdOA as substrate clearly distinguished Sanfilippo B patients from normal controls, and Sanfilippo A, C and D patients.

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
D009083 Mucopolysaccharidoses Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Mucopolysaccharidosis
D009084 Mucopolysaccharidosis III Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. Polydystrophic Oligophrenia,Sanfilippo's Syndrome,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency,Heparan Sulfate Sulfatase Deficiency,MPS 3 A,MPS 3 B,MPS 3 C,MPS 3 D,MPS III A,MPS III B,MPS III C,MPS III D,MPS IIIA,MPS IIIB,MPS IIIC,MPS IIID,MPS3A,MPS3B,MPS3C,Mucopolysaccharidosis 3,Mucopolysaccharidosis Type 3 A,Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome,Mucopolysaccharidosis Type 3 B,Mucopolysaccharidosis Type 3 C,Mucopolysaccharidosis Type 3 D,Mucopolysaccharidosis Type IIIA,Mucopolysaccharidosis Type IIIB,Mucopolysaccharidosis Type IIIC,Mucopolysaccharidosis Type IIID,N-Acetyl-alpha-D-Glucosaminidase Deficiency,N-Acetylglucosamine-6-Sulfatase Deficiency,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency,NAGLU Deficiency,San Filippo's Syndrome,Sanfilippo Syndrome,Sanfilippo Syndrome A,Sanfilippo Syndrome B,Sanfilippo Syndrome C,Sanfilippo Syndrome D,Sulfamidase Deficiency,Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies,Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiencies, N-Acetyl-alpha-D-Glucosaminidase,Deficiencies, N-Acetylglucosamine-6-Sulfatase,Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiencies, NAGLU,Deficiencies, Sulfamidase,Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiency, N-Acetyl-alpha-D-Glucosaminidase,Deficiency, N-Acetylglucosamine-6-Sulfatase,Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiency, NAGLU,Deficiency, Sulfamidase,MPS IIIDs,Mucopolysaccharidosis IIIs,Mucopolysaccharidosis Type IIIAs,Mucopolysaccharidosis Type IIIBs,Mucopolysaccharidosis Type IIICs,Mucopolysaccharidosis Type IIIDs,N Acetyl alpha D Glucosaminidase Deficiency,N Acetylglucosamine 6 Sulfatase Deficiency,N Acetylglucosamine 6 Sulfate Sulfatase Deficiency,N-Acetyl-alpha-D-Glucosaminidase Deficiencies,N-Acetylglucosamine-6-Sulfatase Deficiencies,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies,N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide,N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide,NAGLU Deficiencies,Oligophrenia, Polydystrophic,Oligophrenias, Polydystrophic,Polydystrophic Oligophrenias,San Filippo Syndrome,San Filippos Syndrome,Sanfilippo Syndromes,Sanfilippos Syndrome,Sulfamidase Deficiencies,Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate,Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate,Syndrome, San Filippo's,Syndrome, Sanfilippo,Syndrome, Sanfilippo's,Syndromes, Sanfilippo
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D004187 Disaccharides Oligosaccharides containing two monosaccharide units linked by a glycosidic bond. Disaccharide
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000117 Acetylglucosamine The N-acetyl derivative of glucosamine. Acetyl Glucosamine,N-Acetyl Glucosamine,N-Acetyl-beta-D-Glucosamine,N-Acetylglucosamine,beta-N-Acetylglucosamine,2-Acetamido-2-Deoxy-D-Glucose,2-Acetamido-2-Deoxyglucose,N-Acetyl-D-Glucosamine,2 Acetamido 2 Deoxy D Glucose,2 Acetamido 2 Deoxyglucose,Glucosamine, Acetyl,Glucosamine, N-Acetyl,N Acetyl D Glucosamine,N Acetyl Glucosamine,N Acetyl beta D Glucosamine,N Acetylglucosamine,beta N Acetylglucosamine
D000118 Acetylglucosaminidase A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue. N-Acetyl-beta-D-glucosaminidase,Chitobiase,N,N-Diacetylchitobiase,N-Ac-beta-Glucosaminidase,NAGase,beta-D-Acetamido-2-Deoxyglucosidase,beta-D-N-acetylglucosaminidase,beta-N-Acetylglucosaminidase,N Ac beta Glucosaminidase,N Acetyl beta D glucosaminidase,N,N Diacetylchitobiase,beta D Acetamido 2 Deoxyglucosidase,beta D N acetylglucosaminidase,beta N Acetylglucosaminidase

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