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Mucopolysaccharidosis, type vi, severe

MedGen UID:
865690
•Concept ID:
C4017253
•
Finding
Synonym: MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE
 
OMIM®: 611542

Professional guidelines

PubMed

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
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R
J Inherit Metab Dis 2011 Dec;34(6):1183-97. Epub 2011 Jul 9 doi: 10.1007/s10545-011-9359-8. PMID: 21744090Free PMC Article
Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment.
Harmatz P
J Pediatr (Rio J) 2008 Mar-Apr;84(2):103-6. doi: 10.2223/JPED.1768. PMID: 18372931

Recent clinical studies

Etiology

Causes of death in mucopolysaccharidoses.
Rintz E, Banacki M, Ziemian M, Kobus B, Wegrzyn G
Mol Genet Metab 2024 Jul;142(3):108507. Epub 2024 May 24 doi: 10.1016/j.ymgme.2024.108507. PMID: 38815294
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
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
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Nicolas-Jilwan M, AlSayed M
Pediatr Radiol 2018 Sep;48(10):1503-1520. Epub 2018 May 11 doi: 10.1007/s00247-018-4139-3. PMID: 29752520
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

Diagnosis

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
Enzyme replacement therapy: efficacy and limitations.
Concolino D, Deodato F, Parini R
Ital J Pediatr 2018 Nov 16;44(Suppl 2):120. doi: 10.1186/s13052-018-0562-1. PMID: 30442189Free PMC Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Malinova V, Różdżyńska-Świątkowska A, Golda A, Kulpanovich A, Kaldenovna Abdilova G, Voskoboeva E, Tylki-Szymańska A
Pediatr Int 2014 Aug;56(4):520-5. Epub 2014 Apr 1 doi: 10.1111/ped.12281. PMID: 24373060
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R
J Inherit Metab Dis 2011 Dec;34(6):1183-97. Epub 2011 Jul 9 doi: 10.1007/s10545-011-9359-8. PMID: 21744090Free PMC Article
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

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
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
Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.
Parini R, Deodato F
Int J Mol Sci 2020 Apr 23;21(8) doi: 10.3390/ijms21082975. PMID: 32340185Free 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
Therapy for the mucopolysaccharidoses.
Valayannopoulos V, Wijburg FA
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v49-59. doi: 10.1093/rheumatology/ker396. PMID: 22210671

Prognosis

Causes of death in mucopolysaccharidoses.
Rintz E, Banacki M, Ziemian M, Kobus B, Wegrzyn G
Mol Genet Metab 2024 Jul;142(3):108507. Epub 2024 May 24 doi: 10.1016/j.ymgme.2024.108507. PMID: 38815294
Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.
Parini R, Deodato F
Int J Mol Sci 2020 Apr 23;21(8) doi: 10.3390/ijms21082975. PMID: 32340185Free PMC Article
Enzyme replacement therapy: efficacy and limitations.
Concolino D, Deodato F, Parini R
Ital J Pediatr 2018 Nov 16;44(Suppl 2):120. doi: 10.1186/s13052-018-0562-1. PMID: 30442189Free PMC Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Malinova V, Różdżyńska-Świątkowska A, Golda A, Kulpanovich A, Kaldenovna Abdilova G, Voskoboeva E, Tylki-Szymańska A
Pediatr Int 2014 Aug;56(4):520-5. Epub 2014 Apr 1 doi: 10.1111/ped.12281. PMID: 24373060
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

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
Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.
Parini R, Deodato F
Int J Mol Sci 2020 Apr 23;21(8) doi: 10.3390/ijms21082975. PMID: 32340185Free 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
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Malinova V, Różdżyńska-Świątkowska A, Golda A, Kulpanovich A, Kaldenovna Abdilova G, Voskoboeva E, Tylki-Szymańska A
Pediatr Int 2014 Aug;56(4):520-5. Epub 2014 Apr 1 doi: 10.1111/ped.12281. PMID: 24373060
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320

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
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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