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Literature DB >> 8127069

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).

W He¹, A M Boer, W J Kleijer, O P van Diggelen.

Abstract

4-Methylumbelliferyl-alpha-N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomal N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed < 1% of mean normal GlcNAc-6S sulphatase activity. The enzymatic liberation of the fluorochrome from 4-methyl-umbelliferyl-alpha-N-acetylglucosamine 6-sulphate requires the sequential action of the GlcNAc-6S sulphatase and alpha-N-acetylglucosaminidase. A normal level of alpha-N-acetylglucosaminidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-alpha-N-acetylglucosaminide formed by the GlcNAc-6S sulphatase. A second incubation in the presence of excess alpha-N-acetylglucosaminidase is needed to avoid underestimation of the GlcNAc-6S sulphatase activity.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1993 PMID： 8127069 DOI： 10.1007/bf00711508

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

12 in total

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Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

2. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

Authors: O P van Diggelen; H Zhao; W J Kleijer; H C Janse; B J Poorthuis; J van Pelt; J P Kamerling; H Galjaard
Journal: Clin Chim Acta Date: 1990-02-28 Impact factor: 3.786

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Authors: P Kaplan; L S Wolfe
Journal: J Pediatr Date: 1987-02 Impact factor: 4.406

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Authors: R Gatti; C Borrone; P Durand; S De Virgilis; G Sanna; A Cao; K von Figura; H Kresse; E Paschke
Journal: Eur J Pediatr Date: 1982-03 Impact factor: 3.183

5. Sanfilippo syndrome, type D: a spectrophotometric assay with prenatal diagnostic potential.

Authors: R W Nowakowski; J N Thompson; K B Taylor
Journal: Pediatr Res Date: 1989-11 Impact factor: 3.756

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

Authors: G V Coppa; P L Giorgi; L Felici; O Gabrielli; E Donti; S Bernasconi; H Kresse; E Paschke; C Mastropaolo
Journal: Eur J Pediatr Date: 1983-04 Impact factor: 3.183

7. N-Acetylglucosamine-6-sulfate sulfatase from human urine.

Authors: R Basner; H Kresse; K von Figura
Journal: J Biol Chem Date: 1979-02-25 Impact factor: 5.157

8. Syntheses of disaccharides with (1----4)-beta glycosidic linkages related to the 4- and 6-sulfates and the 4,6-disulfates of chondroitin.

Authors: M Zsiska; B Meyer
Journal: Carbohydr Res Date: 1991-08-20 Impact factor: 2.104

9. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).

Authors: E A Karpova; T V Dudukina; I V Tsvetkova; A M Boer; H C Janse; O P van Diggelen
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

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

Authors: H Kresse; E Paschke; K von Figura; W Gilberg; W Fuchs
Journal: Proc Natl Acad Sci U S A Date: 1980-11 Impact factor: 11.205

15 in total

1. New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry.

Authors: Brian J Wolfe; Farideh Ghomashchi; Tim Kim; Cynthia A Abam; Martin Sadilek; Rhona Jack; Jerry N Thompson; C Ronald Scott; Michael H Gelb; Frantisek Turecek
Journal: Bioconjug Chem Date: 2012-03-09 Impact factor: 4.774

2. Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.

Authors: E Downs-Kelly; M Z Jones; J Alroy; K T Cavanagh; B King; R E Lucas; J C Baker; S A Kraemer; J J Hopwood
Journal: J Mol Neurosci Date: 2000-12 Impact factor: 3.444

3. Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.

Authors: T Litjens; J Bielicki; D S Anson; K Friderici; M Z Jones; J J Hopwood
Journal: Biochem J Date: 1997-10-01 Impact factor: 3.857

Review 4. Newborn screening for lysosomal storage diseases.

Authors: Michael H Gelb; C Ronald Scott; Frantisek Turecek
Journal: Clin Chem Date: 2014-12-04 Impact factor: 8.327

5. Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

Authors: Chunli Yu; Qin Sun; Hui Zhou
Journal: N Am J Med Sci (Boston) Date: 2013

Review 6. Sanfilippo syndrome: a mini-review.

Authors: M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal: J Inherit Metab Dis Date: 2008-04-04 Impact factor: 4.982

7. Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.

Authors: Hamid Khaledi; Michael H Gelb
Journal: Anal Chem Date: 2020-08-13 Impact factor: 6.986

8. Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice.

Authors: Feng Wang; Derek R Moen; Chelsee Sauni; Shih-Hsin Kan; Shan Li; Steven Q Le; Brett Lomenick; Xiaoyi Zhang; Sean Ekins; Srikanth Singamsetty; Jill Wood; Patricia I Dickson; Tsui-Fen Chou
Journal: Mol Pharm Date: 2020-12-15 Impact factor: 4.939

9. Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Authors: Roger Lawrence; Jillian R Brown; Kanar Al-Mafraji; William C Lamanna; James R Beitel; Geert-Jan Boons; Jeffrey D Esko; Brett E Crawford
Journal: Nat Chem Biol Date: 2012-01-08 Impact factor: 15.040

Review 10. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.

Authors: Frits A Wijburg; Grzegorz Węgrzyn; Barbara K Burton; Anna Tylki-Szymańska
Journal: Acta Paediatr Date: 2013-02-06 Impact factor: 2.299