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Mucopolysaccharidosis III (Sanfilippo Syndrome)

Subscribe to New Research on 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.

Also Known As:

Sanfilippo Syndrome; MPS III A; MPS III B; MPS III C; MPS III D; Sanfilippo's Syndrome; Mucopolysaccharidosis 3; San Filippo's Syndrome; IIIs, Mucopolysaccharidosis; Mucopolysaccharidosis IIIs; Oligophrenia, Polydystrophic; Oligophrenias, Polydystrophic; Polydystrophic Oligophrenias; San Filippo Syndrome; San Filippos Syndrome; Sanfilippos Syndrome; Syndrome, San Filippo's; Syndrome, Sanfilippo's; Polydystrophic Oligophrenia

Networked: 142 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mucopolysaccharidosis III (Sanfilippo Syndrome)
2.	Mucopolysaccharidosis IV (Morquio Syndrome)
3.	Mucopolysaccharidosis VII (Sly Syndrome)
4.	Mucopolysaccharidoses
5.	Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1.	Sanberg, Paul R: 7 articles (01/2014 - 12/2003)
2.	Garbuzova-Davis, Svitlana: 6 articles (01/2011 - 12/2003)
3.	Willing, Alison E: 5 articles (01/2014 - 12/2003)
4.	Pshezhetsky, Alexey V: 4 articles (02/2015 - 01/2009)
5.	Hopwood, John J: 4 articles (01/2010 - 11/2004)
6.	Heard, Jean Michel: 3 articles (02/2015 - 11/2004)
7.	Ohmi, Kazuhiro: 3 articles (02/2015 - 04/2007)
8.	Heldermon, Coy D: 3 articles (09/2014 - 01/2007)
9.	Giugliani, Roberto: 3 articles (09/2014 - 05/2010)
10.	Neufeld, Elizabeth F: 3 articles (01/2011 - 07/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidosis III:

1.	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 12/07/1999 - "The phenotype of the alpha-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy." 05/01/2010 - "Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported. " 07/01/2009 - "Our results demonstrate the advantages of intravenously administering hUCB cells into a mouse model of Sanfilippo Syndrome type B, the advantages probably a result of Naglu delivery to enzyme-deficient organs." 01/01/2008 - "These data demonstrated the essential function in Arabidopsis consistent with the contribution of NAGLU to the Sanfilippo syndrome in human. " 11/10/2004 - "We observed relevant behaviors in the mouse model of Sanfilippo syndrome type B (MPSIIIB), in which the gene coding for alpha-N-acetylglucosaminidase (NaGlu) is invalidated. "
2.	GALNS deficiencyIBA 01/01/2012 - "21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2), 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). " 05/01/2010 - "ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). " 12/01/1997 - "An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280,000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140,000 live births (1 in 72,000 male live births) for MPS II (Hunter syndrome); 1 in 280,000 for MPS III (Sanfilippo syndrome) and 1 in 76,000 for MPS IV A (Morquio syndrome type A). " 01/01/2005 - "The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. " 12/15/2003 - "An incidence of approximately 1 in 107,000 live births was obtained for MPS IH (Hurler phenotype); 1 in 320,000 live births (1 in 165,000 male live births) for MPS II (Hunter Syndrome); 1 in 58,000 for MPS III (Sanfilippo Syndrome); 1 in 640,000 for MPS IVA (Morquio Syndrome type A), and 1 in 320,000 for MPS VI (Maroteaux-Lamy Syndrome). "
3.	genistinIBA 04/01/2008 - "The aim of this study was to examine urinary GAG concentration, hair morphology, and cognitive function in patients receiving genistin treatment for Sanfilippo syndrome (MPS type III). " 04/01/2008 - "This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year. " 04/01/2008 - "Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients."
4.	Heparitin Sulfate (Heparan Sulfate)IBA 01/01/2015 - "Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). " 01/01/2015 - "Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C." 03/01/2013 - "Sanfilippo disease (Mucopolysaccharidosis III) is a neurodegenerative lysosomal disorder characterized by accumulation of the glycosaminoglycan heparan sulfate (HS). " 11/01/1984 - "Fractionation and characterization of urinary heparan sulfate excreted by patients with Sanfilippo syndrome." 10/15/1974 - "[Characteristics of urinary heparan sulfate in 5 cases of Sanfilippo's syndrome]."
5.	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 01/01/2010 - "These diseases exhibit widespread pathology yet result from a single gene deficiency, in the case of Sanfilippo syndrome the lysosomal enzyme sulfamidase. " 01/01/2001 - "This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase." 01/01/2001 - "We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. " 01/01/2001 - "We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. " 01/01/2001 - "A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant."
6.	EnzymesIBA 07/01/2001 - "Deficiency of any one of these enzymes results in a single clinical phenotype known as Sanfilippo syndrome. " 03/01/2013 - "Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate. " 01/01/2013 - "Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. " 01/01/2007 - "Sanfilippo syndrome type D is an autosomal recessive lysosomal storage disease that is caused by a deficiency of N-acetylglucosamine-6-sulphatase, one of the enzymes involved in the catabolism of heparan sulphate. " 04/15/2001 - "These enzymes, when defective in affected children, lead to the lysosomal storage disease known as Sanfilippo syndrome. "
7.	GlycosaminoglycansIBA 01/01/2015 - "Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. " 01/01/2014 - "Repeated biochemical testing at age 11 and 13 revealed increased levels of glycosaminoglycans confirming the diagnosis of Sanfilippo syndrome type A. " 01/01/1981 - "Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy." 11/01/1977 - "The characterization of intracellularly stored glycosaminoglycans from organs of a patient suffering from mucopolysaccharidosis III A (Sanfilippo A disease) is described. " 11/01/1970 - "Brain glycosaminoglycans and glycosaminoglycan sulphotransferase in Sanfilippo syndrome."
8.	Acetylglucosaminidase (NAGase)IBA 01/01/2006 - "Based on mucopolysacchariduria and the deficiency of N-acetylglucosaminidase, the diagnosis of Sanfilippo syndrome type B was made. " 07/01/1972 - "Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in alpha-acetylglucosaminidase activity (alpha-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). " 07/01/1972 - "Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients." 01/01/2011 - "Sanfilippo syndrome type B (MPS IIIB) is characterized by profound mental retardation in childhood, dementia and death in late adolescence; it is caused by deficiency of α-N-acetylglucosaminidase and resulting lysosomal storage of heparan sulfate. " 01/01/2011 - "Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of α-N-acetylglucosaminidase enzyme, leading to accumulation of heparan sulfate within lysosomes and eventual progressive cerebral and systemic multiple organ abnormalities. "
9.	Hexosaminidases (Hexosaminidase)IBA 12/01/2010 - "Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). " 05/01/2010 - "Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease resulting from a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. " 01/01/2007 - "Mucopolysaccharidosis (MPS) IIIB (Sanfilippo Syndrome type B) is caused by a deficiency in the lysosomal enzyme N-acetyl-glucosaminidase (Naglu). " 09/01/2013 - "Mucopolysaccharidosis type IIIB (MPS IIIB) or Sanfilippo Syndrome type B is a lysosomal storage disease resulting from the deficiency of N-acetyl glucosaminidase (NAGLU) activity. "
10.	heparan sulfate sulfataseIBA 04/15/2000 - "Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of the enzyme heparan N-sulfatase (NS, EC 3.10.1.1), required for the degradation of heparan sulfate. " 01/01/2001 - "Sanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate and the loss of function of lysosomal heparan N-sulfatase activity. " 12/01/1999 - "Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). " 09/01/2014 - "Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of one of four lysosomal enzymes: Type A - heparan N-sulfatase (SGSH), Type B - a-N-acetylglucosaminidase (NAGLU), Type C - acetyl CoA a-glucosaminide acetyltransferase (HGSNAT) and Type D - N-acetylglucosamine-6-sulfatase (GNS). "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 08/01/2005 - "Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B." 03/01/1982 - "Enzyme replacement therapy by transplantation of HLA-compatible fibroblasts in Sanfilippo syndrome: another trial."
2.	Enzyme Replacement Therapy 03/01/1982 - "Enzyme replacement therapy by transplantation of HLA-compatible fibroblasts in Sanfilippo syndrome: another trial."
3.	Investigational Therapies (Experimental Therapy) 09/01/2014 - "Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies."
4.	Transplants (Transplant) 08/01/2005 - "A hUCB cell transplant may be an effective therapeutic strategy for enzyme delivery in Sanfilippo syndrome type B."
5.	Hematopoietic Stem Cell Transplantation 11/01/2004 - "This is a review of the clinical responses and prospectus of new therapies following use of allogeneic hematopoietic stem cell transplantation for the treatment of the following disorders: Hurlers syndrome (MPS 1-H), globoid cell leukodystrophy (GLD; Krabbes disease), adrenoleukodystrophy, metachromatic leukodystrophy, Wolmans disease, I-cell disease (mucolipidosis II; MLS-II), alpha-mannosidosis, fucosidosis, Niemann-Pick B/A disease, Slys disease (MPS VII), Gauchers disease (Gaucher-II-III), Battens disease, Farbers disease, Sanfilippo syndrome (MPS-III), Hunters disease (MPS-II), Maroteaux-Lamy syndrome (MPS-VI), and aspartylglucosaminuria (AGU). "