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Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)

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Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).

Also Known As:

Syndrome, Maroteaux-Lamy; Arylsulfatase B Deficiency; Mucopolysaccharidosis 6; Mucopolysaccharidosis Type 6; N-Acetylgalactosamine-4-Sulfatase Deficiency; 6, Mucopolysaccharidosis Type; Arylsulfatase B Deficiencies; Deficiencies, Arylsulfatase B; Deficiencies, N-Acetylgalactosamine-4-Sulfatase; Deficiency, Arylsulfatase B; Deficiency, N-Acetylgalactosamine-4-Sulfatase; Dwarfism, Polydystrophic; Maroteaux Lamy Syndrome; Mucopolysaccharidosis Type 6s; Mucopolysaccharidosis VIs; N-Acetylgalactosamine-4-Sulfatase Deficiencies; Type 6, Mucopolysaccharidosis; Type 6s, Mucopolysaccharidosis; Maroteaux-Lamy Syndrome; Polydystrophic Dwarfism

Networked: 155 relevant articles (5 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mucopolysaccharidoses
2.	Mucopolysaccharidosis II (Hunter Syndrome)
3.	Mucopolysaccharidosis I (Hurler Syndrome)
4.	Disease Progression
5.	Glycogen Storage Disease Type II (Pompe's Disease)

Experts

1.	Hopwood, John J: 18 articles (03/2015 - 04/2002)
2.	Giugliani, Roberto: 13 articles (08/2014 - 01/2003)
3.	Harmatz, Paul: 13 articles (08/2014 - 05/2004)
4.	Ketteridge, David: 7 articles (08/2014 - 04/2005)
5.	Guffon, Nathalie: 7 articles (08/2014 - 04/2005)
6.	Scarpa, Maurizio: 6 articles (03/2015 - 04/2006)
7.	Beck, Michael: 6 articles (03/2014 - 04/2005)
8.	Swiedler, Stuart J: 6 articles (02/2010 - 04/2005)
9.	Lampe, Christina: 5 articles (08/2014 - 01/2013)
10.	Auclair, Dyane: 5 articles (01/2012 - 03/2003)

Drugs and Biologics

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

1.	EnzymesIBA 11/15/2010 - "Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)." 12/01/2004 - "Secondly, novel technologies need to be developed to deliver therapeutic enzymes effectively to tissues such as the cardiac muscle and kidney in Fabry's disease, skeletal muscle in patients with Pompe's disease, and to joint tissues and structures in patients with Hurler's disease and Maroteaux-Lamy syndrome. " 06/15/2010 - "Although ERT using recombinant lysosomal enzymes has been shown to be effective in altering the clinical course of Gaucher disease, Fabry disease, Hurler syndrome, Hunter syndrome, Maroteaux-Lamy syndrome, and Pompe disease, the recalcitrance of certain disease manifestations underscores important unanswered questions related to dosing regimes, tissue half-life of the recombinant enzyme and the ability of intravenously administered enzyme to reach critical sites of known disease pathology. " 01/01/2013 - "The catalytic activity was evaluated with fluorometric micromethods using artificial substrates marked with 4-methylumbelliferone.The reference values for a control population were established for the enzymes listed above, and 242 patients were found to have an enzyme deficiency, guiding to the following diagnoses: Fabry disease (n = 31), Pompe disease (n = 16), Hurler Syndrome (n = 15), Maroteaux-Lamy Syndrome (n = 34), GM1 Gangliosidosis (n = 10), Morquio B (n = 1), Gaucher disease (n = 101), Sandhoff disease (n = 1), Mucolipidosis (n = 2), and Hunter Syndrome (n = 31). " 01/01/1981 - "An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. "
2.	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 03/01/2003 - "This study evaluates the immunological response following weekly 2h infusions of recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) in Mucopolysaccharidosis VI (MPS VI) cats. " 07/01/1986 - "Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI." 08/01/1985 - "The demonstration of two allelic mutations in the feline arylsulfatase B gene documented the occurrence of genetic heterogeneity in feline mucopolysaccharidosis VI and permitted characterization of the enzymatic defect in homoallelic and heteroallelic (genetic compound) homozygotes, providing a model for the study of allelism in human genetic disorders." 08/01/1985 - "Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI." 08/01/2014 - "Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. "
3.	Neutralizing AntibodiesIBA 03/01/2015 - "In the prospect of an AAV8-mediated, liver-directed gene therapy clinical trial for mucopolysaccharidosis VI (MPS VI), a lysosomal storage disorder caused by arylsulfatase B (ARSB) deficiency, we investigated in a multiethnic cohort of MPS VI patients the prevalence of neutralizing antibodies (Nab) to AAV8 and the presence of ARSB cross-reactive immunologic material (CRIM), which will either affect the efficacy of gene transfer or the duration of phenotypic correction. " 03/01/2015 - "Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial."
4.	Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/31/1991 - "The enzyme activity of arylsulfatase A and arylsulfatase B was studied in Epstein-Barr virus-transformed lymphoid cell lines established from control individuals and patients affected with metachromatic leukodystrophy, mucopolysaccharidosis type VI (or Maroteaux-Lamy syndrome) and multiple sulfatase deficiency. " 01/01/1981 - "An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. "
5.	DEAE-CelluloseIBA 01/01/1981 - "An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. "
6.	galsulfase FDA Link 08/01/2014 - "Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study." 03/01/2014 - "Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI." 03/01/2013 - "Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy." 09/01/2010 - "Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures." 01/01/2009 - "Galsulfase, a Food and Drug Administration-approved enzyme replacement therapy for mucopolysaccharidosis VI, is administered once weekly in a hospital setting as a 4-hour intravenous infusion. "
7.	GALNS deficiencyIBA 12/01/1997 - "No cases of MPS IS (Scheie phenotype), MPS IV B (Morquio syndrome type B) or MPS VI (Maroteaux-Lamy syndrome) were ascertained during the study period. " 03/01/2014 - "Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders. " 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). " 01/01/2013 - "Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. "
8.	AcetylgalactosamineIBA 03/01/2005 - "Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study." 03/01/2005 - "Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme-N-acetylgalactosamine 4-sulphatase (ASB). " 03/15/1986 - "Arylsulphatase B activity in fibroblast homogenates assayed with O-(beta-N-acetylgalactosamine 4-sulphate)-(1----4)-O-D-(beta-glucuronic acid)-(1----3)-O-D-N-acetyl[1-3H] galactosaminitol 4-sulphate derived from chondroitin 4-sulphate as substrate clearly distinguished Maroteaux-Lamy-syndrome patients from normal controls and other mucopolysaccharidosis patients. " 01/01/2013 - "Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. "
9.	Dermatan SulfateIBA 01/01/2009 - "We studied the relationship between lysosome storage and impairment of different intracellular pathways and organelle function in mucopolysaccharidosis VI, which is characterized by accumulation of dermatan sulfate and signs of visceral and skeletal but not cerebral involvement. " 11/01/2002 - "Mucopolysaccharidosis VI (MPS VI), due to recessively inherited 4-sulfatase (4S) deficiency, results in lysosomal storage of dermatan sulfate in numerous tissues. " 01/01/2009 - "Importantly, we show that prevention of dermatan sulfate storage in the mucopolysaccharidosis VI rat visceral organs by gene transfer results in correction of abnormal autophagy, inflammation, and apoptosis, suggesting that dermatan sulfate accumulation impairs lysosomal ability to receive and degrade molecules and organelles from the autophagic pathway, thus leading to cell toxicity. " 01/01/2009 - "We observe similar anomalies, along with inflammation and cell death, in association with dermatan sulfate storage in the visceral organs of mucopolysaccharidosis VI rats, but not in their central nervous system where dermatan sulfate storage is absent. " 11/01/1998 - "Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses (MPSs) that is caused by the incomplete degradation and storage of dermatan sulfate. "
10.	GlycosaminoglycansIBA 01/01/2012 - "Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats." 10/01/2013 - "Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. " 04/15/2005 - "Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)." 01/01/2012 - "Mucopolysaccharidosis VI (MPS-VI) is caused by a deficiency in N-acetylgalactosamine-4-sulfatase activity, resulting in lysosomal accumulation of partially degraded glycosaminoglycans (GAGs). " 03/01/2011 - "Mucopolysaccharidosis VI (MPS VI) is caused by deficient arylsulfatase B (ARSB) activity resulting in lysosomal storage of glycosaminoglycans (GAGs). "

Therapies and Procedures

1.	Enzyme Replacement Therapy 08/22/1997 - "Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models." 05/01/2010 - "Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study." 03/01/2014 - "Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy." 11/01/2012 - "There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. " 12/01/2010 - "Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2010 - "The objective of the present study was to emphasise the oral and dental findings of a male patient with the Maroteaux-Lamy syndrome who successfully underwent bone marrow transplantation (BMT) at the age of 22 months. " 05/01/2008 - "We treated a 10-year-old girl with Maroteaux-Lamy syndrome successfully with bone marrow transplantation (BMT). " 05/01/2008 - "Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation." 10/01/2001 - "Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome." 02/01/1999 - "Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up."
3.	Transplants (Transplant) 08/01/2000 - "We report here the first successful umbilical cord blood transplant as treatment of Maroteaux-Lamy syndrome." 08/01/2000 - "A 5-year-old boy with Maroteaux-Lamy syndrome has successful recovery of bone marrow and enzymatic functions after umbilical cord blood transplant from his unaffected HLA-identical brother. " 01/01/1985 - "We describe the histopathologic and ultrastructural features of corneal buttons from the original and repeat corneal grafts of two patients with the Maroteaux-Lamy syndrome (MPS VI-B). " 01/01/1985 - "Occurrence of mucopolysaccharide in corneal grafts in the Maroteaux-Lamy syndrome." 01/01/2010 - "Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant."
4.	Corneal Transplantation (Keratoplasty) 12/01/2011 - "Deep anterior lamellar keratoplasty for corneal opacification in Maroteaux-Lamy syndrome: is it the treatment of choice?" 12/01/2010 - "To present a case of Maroteaux-Lamy syndrome (MLS), which underwent deep anterior lamellar keratoplasty (DALK) for visual rehabilitation. " 12/01/2010 - "Deep anterior lamellar keratoplasty for Maroteaux-Lamy syndrome." 03/01/1997 - "Corneal transplantation in Maroteaux-Lamy syndrome." 08/01/1992 - "Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage."
5.	Hematopoietic Stem Cell Transplantation 02/01/2011 - "Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI." 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). " 12/01/2010 - "Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation."