Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

Matalon, Reuben; Dorfman, Albert

doi:10.1172/jci107830

Cited by 58 publications

(19 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mucolipidosis II fibroblasts (I-cell disease) have markedly reduced intracellular activities of a variety of lysosomal hydrolases (27)(28)(29). Intracellular acetyl-CoA:a-glucosaminide N-acetyltransferase activity from a mucolipidosis II cell line was found to be in the range of controls, as has previously been reported (6,7), and a-N-acetylglucosaminidase in Sanfilippo syndrome B form (8,9). As shown in this paper, an acetyl-CoA:aglucosaminide N-acetyltransferase is deficient in (31)(32)(33)(34), exoglycosidases, and sulfatases (for reviews see ref.…”

Section: Resultssupporting

confidence: 83%

“…Unless otherwise stated the incubation mixture contained 220 pmol of unacetylated trisaccharide 1 (about 11,000 cpm), [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] ,g of cell protein, 0.14 M sodium acetate at pH 5.5,3.8 mM NaN3, and 2 mM acetyl-CoA in a final volume of 7 MI. Paraffin oil (5,ul) was layered on the incubation mixture.…”

Section: Methodsmentioning

confidence: 99%

“…Two enzyme defects have been known to cause the Sanfilippo syndrome. In the Sanfilippo A form, a sulfamidase (N-sulfoglucosaminide sulfamidase) (6,7) and in B form an a-N-acetylglucosaminidase (EC 3.2.1.50) (8,9) are deficient. Both enzymes split linkages unique to heparan sulfate and heparin.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Klein¹,

Kresse²,

Figura³

1978

Proc. Natl. Acad. Sci. U.S.A.

119

View full text Add to dashboard Cite

Removal of N-sulfated glucosamine residues during degradation of heparan sulfate is accomplished by the sequential action of three enzymes. Action of sulfamidase resuits in the formation of a-glucosaminide residues. Removal of these groups requires conversion to a-N-acetylglucosaminide by the action of an acetyltransferase in the presence of acetylCoA, followed by hydrolysis by a-N-acetylglucosaminidase. In

show abstract

Section: Resultssupporting

confidence: 83%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Klein¹,

Kresse²,

Figura³

1978

Proc. Natl. Acad. Sci. U.S.A.

119

View full text Add to dashboard Cite

show abstract

“…When GlcNAc(6S)-Gal(6S)-GlcNAc(6S)-[1-3H]Gal-ol was used as substrate, the incubation mixture contained [3][4][5][6] Ml of 1 mM NaOH, and the mixture was loaded onto a 1.5-ml Dowex 1-X2 (200-400 mesh) column. The disulfated product was eluted with 8 ml of 0.6 M NaCl, and the remaining substrate was eluted with 5 ml of 1.5 M NaCl.…”

Section: Methodsmentioning

confidence: 99%

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

Kresse¹,

Paschke²,

Figura³

et al. 1980

Proc. Natl. Acad. Sci. U.S.A.

103

View full text Add to dashboard Cite

Skin fibroblasts from two patients who had symptoms of the Sanfilippo syndrome (mucopolysaccharidosis III) accumulated excessive amounts of hean sulfate and were unable to release sulfate from N-acety lucosamine)--sulfate linkages in heparan sulfate-derived oligosaccharides. Keratan sulfate-derived oligosaccharides bearing the same residue at the nonreducing end and p-nitrophenyl6sulfo-2-acetamido-2-deoxy-D-ucopyranoside were degraded normally. Kinetic differences between the sulfatase activities of normal fibroblasts were found. These observations suggest that N-acetylglucosamine4-6sulfate sulfatase activities degrading heparan sulfate and keratan sulfate, respectively, can be distinguished.

show abstract

“…On the basis of different lysosomal enzyme deficiencies MPS-III has been divided into four biochemical types, designated as types A, B, C, and D. The inactive enzymes are 2-deoxyglucoside-2-sulfamate sulfatase in type A [9,10,13], alpha-N-acetylglucosaminidase in type B [4,16], acetyl-CoA : alpha-glucosaminide N-acetyl-transferase in type C [8], and Nacetylglucosamine-6-sulfate sulfatase in type D [111.…”

Section: Introductionmentioning

confidence: 99%

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

et al. 1983

View full text Add to dashboard Cite

Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.

show abstract

Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

Cited by 58 publications

References 33 publications

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

Contact Info

Product

Resources

About