Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)

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)


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
3. Neutralizing AntibodiesIBA
4. Cerebroside-Sulfatase (Arylsulfatase A)IBA
5. DEAE-CelluloseIBA
6. galsulfaseFDA Link
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
9. Dermatan SulfateIBA
10. GlycosaminoglycansIBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Transplants (Transplant)
4. Corneal Transplantation (Keratoplasty)
5. Hematopoietic Stem Cell Transplantation