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Mucopolysaccharidosis type 6, rapidly progressing

MedGen UID:
1842485
•Concept ID:
C5679781
•
Disease or Syndrome
Synonyms: Arylsulfatase B deficiency, rapidly progressing; arylsulfatase B deficiency, rapidly progressing; MPS6, rapidly progressing; MPSVI, rapidly progressing; mucopolysaccharidosis type 6, rapidly progressing; Mucopolysaccharidosis type VI, rapidly progressing; mucopolysaccharidosis type VI, rapidly progressing
 
Monarch Initiative: MONDO:0017171
Orphanet: ORPHA276212

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 6, rapidly 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
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J
Mol Genet Metab 2012 Sep;107(1-2):136-44. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.019. PMID: 22864057

Recent clinical studies

Etiology

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
Current and potential therapeutic strategies for mucopolysaccharidoses.
Noh H, Lee JI
J Clin Pharm Ther 2014 Jun;39(3):215-24. Epub 2014 Feb 25 doi: 10.1111/jcpt.12136. PMID: 24612142
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J
Mol Genet Metab 2012 Sep;107(1-2):136-44. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.019. PMID: 22864057
Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.
Hoffmann B, Mayatepek E
Neuropediatrics 2005 Oct;36(5):285-9. doi: 10.1055/s-2005-872810. PMID: 16217702
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ; MPS VI Study Group
Pediatrics 2005 Jun;115(6):e681-9. doi: 10.1542/peds.2004-1023. PMID: 15930196

Diagnosis

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
Marek-Yagel D, Eliyahu A, Veber A, Shalva N, Philosoph AM, Barel O, Javasky E, Pode-Shakked B, Loewenthal N, Anikster Y, Staretz-Chacham O
Am J Med Genet A 2021 Dec;185(12):3804-3809. Epub 2021 Aug 26 doi: 10.1002/ajmg.a.62453. PMID: 34435740
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Honjo RS, Vaca ECN, Leal GN, Abellan DM, Ikari NM, Jatene MB, Martins AM, Kim CA
BMC Med Genet 2020 Feb 19;21(1):37. doi: 10.1186/s12881-020-0972-y. PMID: 32075597Free PMC Article
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
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J
Mol Genet Metab 2012 Sep;107(1-2):136-44. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.019. PMID: 22864057
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

Therapy

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX
Mol Genet Metab 2021 May;133(1):94-99. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.006. PMID: 33678523
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
Current and potential therapeutic strategies for mucopolysaccharidoses.
Noh H, Lee JI
J Clin Pharm Ther 2014 Jun;39(3):215-24. Epub 2014 Feb 25 doi: 10.1111/jcpt.12136. PMID: 24612142
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ; MPS VI Study Group
Pediatrics 2005 Jun;115(6):e681-9. doi: 10.1542/peds.2004-1023. PMID: 15930196
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome.
Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, King BM, Boulter CD, Moore AJ, Fazzalari NL, Anson DS, Byers S, Hopwood JJ
J Clin Invest 1996 Apr 15;97(8):1864-73. doi: 10.1172/JCI118617. PMID: 8621770Free PMC Article

Prognosis

The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
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
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
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
Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.
Hoffmann B, Mayatepek E
Neuropediatrics 2005 Oct;36(5):285-9. doi: 10.1055/s-2005-872810. PMID: 16217702

Clinical prediction guides

The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX
Mol Genet Metab 2021 May;133(1):94-99. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.006. PMID: 33678523
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Honjo RS, Vaca ECN, Leal GN, Abellan DM, Ikari NM, Jatene MB, Martins AM, Kim CA
BMC Med Genet 2020 Feb 19;21(1):37. doi: 10.1186/s12881-020-0972-y. PMID: 32075597Free PMC Article
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
Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.
Hoffmann B, Mayatepek E
Neuropediatrics 2005 Oct;36(5):285-9. doi: 10.1055/s-2005-872810. PMID: 16217702

Recent systematic reviews

Current and potential therapeutic strategies for mucopolysaccharidoses.
Noh H, Lee JI
J Clin Pharm Ther 2014 Jun;39(3):215-24. Epub 2014 Feb 25 doi: 10.1111/jcpt.12136. PMID: 24612142

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