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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; ARSB Deficiency; Arylsulfatase B Deficiency; Mucopolysaccharidosis 6; Mucopolysaccharidosis Type 6; Mucopolysaccharidosis Type VI; N-Acetylgalactosamine-4-Sulfatase Deficiency; ARSB Deficiencies; Arylsulfatase B Deficiencies; Deficiencies, ARSB; Deficiencies, Arylsulfatase B; Deficiencies, N-Acetylgalactosamine-4-Sulfatase; Deficiency, ARSB; Deficiency, Arylsulfatase B; Deficiency, N-Acetylgalactosamine-4-Sulfatase; Dwarfism, Polydystrophic; Maroteaux Lamy Syndrome; N-Acetylgalactosamine-4-Sulfatase Deficiencies; Type 6, Mucopolysaccharidosis; Type VI, Mucopolysaccharidosis; Maroteaux-Lamy Syndrome; Polydystrophic Dwarfism
Networked: 321 relevant articles (10 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
2. Disease Progression
3. Lysosomal Storage Diseases (Lysosomal Storage Disease)
4. Mucopolysaccharidosis II (Hunter Syndrome)
5. Mucopolysaccharidosis I (Hurler Syndrome)

Experts

1. Giugliani, Roberto: 21 articles (01/2022 - 01/2003)
2. Hopwood, John J: 21 articles (12/2018 - 04/2002)
3. Harmatz, Paul: 17 articles (01/2021 - 05/2004)
4. Guffon, Nathalie: 9 articles (01/2022 - 04/2005)
5. Auricchio, Alberto: 9 articles (03/2021 - 01/2008)
6. Scarpa, Maurizio: 9 articles (01/2019 - 04/2006)
7. Ketteridge, David: 9 articles (08/2014 - 04/2005)
8. Teles, Elisa Leão: 8 articles (01/2022 - 04/2005)
9. Beck, Michael: 8 articles (03/2014 - 04/2005)
10. Auclair, Dyane: 7 articles (01/2012 - 03/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidosis VI:
1. N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
2. EnzymesIBA
3. ArylsulfatasesIBA
4. Cerebroside-Sulfatase (Arylsulfatase A)IBA
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. "
10/31/1991 - "Study of the molecular forms of arylsulfatases confirmed the complete deficiency of arylsulfatase A and arylsulfatase B activities in metachromatic leukodystrophy and mucopolysaccharidosis type VI lymphoid cells, respectively. "
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. "
03/01/2016 - "Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration. "
5. Neutralizing AntibodiesIBA
6. GraphiteIBA
7. DEAE-CelluloseIBA
8. galsulfaseFDA Link
9. AcetylgalactosamineIBA
10. Complementary DNA (cDNA)IBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Liver Transplantation
3. Therapeutics
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Corneal Transplantation (Keratoplasty)