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Mucopolysaccharidosis type 6, slowly progressing

MedGen UID:
1842694
•Concept ID:
C5679780
•
Disease or Syndrome
Synonyms: Arylsulfatase B deficiency, slowly progressing; arylsulfatase B deficiency, slowly progressing; MPS6, slowly progressing; MPSVI, slowly progressing; mucopolysaccharidosis type 6, slowly progressing; Mucopolysaccharidosis type VI, slowly progressing; mucopolysaccharidosis type VI, slowly progressing
 
Monarch Initiative: MONDO:0017172
Orphanet: ORPHA276223

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 6, slowly progressing

Professional guidelines

PubMed

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R
Front Biosci (Landmark Ed) 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. PMID: 27814620
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ
Orphanet J Rare Dis 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51. PMID: 23557332Free PMC Article

Recent clinical studies

Etiology

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group
Mol Genet Metab 2017 Sep;122(1-2):107-112. Epub 2017 Mar 31 doi: 10.1016/j.ymgme.2017.03.008. PMID: 28457718
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, Link B, Mengel E
J Inherit Metab Dis 2012 Nov;35(6):1071-9. Epub 2012 Mar 23 doi: 10.1007/s10545-012-9474-1. PMID: 22441840
Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up.
Gullingsrud EO, Krivit W, Summers CG
Ophthalmology 1998 Jun;105(6):1099-105. doi: 10.1016/S0161-6420(98)96014-6. PMID: 9627663

Diagnosis

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R
Front Biosci (Landmark Ed) 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. PMID: 27814620
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK
Skeletal Radiol 2014 Mar;43(3):359-69. Epub 2014 Jan 4 doi: 10.1007/s00256-013-1797-y. PMID: 24389823Free PMC Article
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, Link B, Mengel E
J Inherit Metab Dis 2012 Nov;35(6):1071-9. Epub 2012 Mar 23 doi: 10.1007/s10545-012-9474-1. PMID: 22441840
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI.
Schlander M, Beck M
Curr Med Res Opin 2009 May;25(5):1285-93. doi: 10.1185/03007990902892633. PMID: 19366306

Therapy

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group
Mol Genet Metab 2017 Sep;122(1-2):107-112. Epub 2017 Mar 31 doi: 10.1016/j.ymgme.2017.03.008. PMID: 28457718
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI.
Schlander M, Beck M
Curr Med Res Opin 2009 May;25(5):1285-93. doi: 10.1185/03007990902892633. PMID: 19366306
Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up.
Gullingsrud EO, Krivit W, Summers CG
Ophthalmology 1998 Jun;105(6):1099-105. doi: 10.1016/S0161-6420(98)96014-6. PMID: 9627663

Prognosis

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group
Mol Genet Metab 2017 Sep;122(1-2):107-112. Epub 2017 Mar 31 doi: 10.1016/j.ymgme.2017.03.008. PMID: 28457718
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R
Front Biosci (Landmark Ed) 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. PMID: 27814620
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, Link B, Mengel E
J Inherit Metab Dis 2012 Nov;35(6):1071-9. Epub 2012 Mar 23 doi: 10.1007/s10545-012-9474-1. PMID: 22441840
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up.
Gullingsrud EO, Krivit W, Summers CG
Ophthalmology 1998 Jun;105(6):1099-105. doi: 10.1016/S0161-6420(98)96014-6. PMID: 9627663

Clinical prediction guides

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group
Mol Genet Metab 2017 Sep;122(1-2):107-112. Epub 2017 Mar 31 doi: 10.1016/j.ymgme.2017.03.008. PMID: 28457718
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ
Orphanet J Rare Dis 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51. PMID: 23557332Free PMC Article
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E
J Inherit Metab Dis 2013 Nov;36(6):1005-13. Epub 2013 Feb 14 doi: 10.1007/s10545-013-9591-5. PMID: 23408180

Recent systematic reviews

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923

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