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Mucopolysaccharidosis, type vi, intermediate

MedGen UID:
865689
•Concept ID:
C4017252
•
Finding
Synonym: MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE
 
OMIM®: 611542

Recent clinical studies

Etiology

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A
NEJM Evid 2022 Jul;1(7):EVIDoa2200052. Epub 2022 Jun 6 doi: 10.1056/EVIDoa2200052. PMID: 38319253
Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network.
Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL
Bone 1997 Nov;21(5):425-31. doi: 10.1016/s8756-3282(97)00175-0. PMID: 9356736

Diagnosis

Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network.
Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Review of mucopolysaccharidosis diseases at the Queen Sirikit National Institute of Child Health in the past 15 years.
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Yang CF, Wu JY, Lin SP, Tsai FJ
J Formos Med Assoc 2001 Dec;100(12):820-3. PMID: 11802522
Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B).
Pilz H, von Figura K, Goebel HH
Ann Neurol 1979 Oct;6(4):315-25. doi: 10.1002/ana.410060405. PMID: 122048

Therapy

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A
NEJM Evid 2022 Jul;1(7):EVIDoa2200052. Epub 2022 Jun 6 doi: 10.1056/EVIDoa2200052. PMID: 38319253
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL
Bone 1997 Nov;21(5):425-31. doi: 10.1016/s8756-3282(97)00175-0. PMID: 9356736

Prognosis

Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network.
Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Review of mucopolysaccharidosis diseases at the Queen Sirikit National Institute of Child Health in the past 15 years.
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Jin WD, Jackson CE, Desnick RJ, Schuchman EH
Am J Hum Genet 1992 Apr;50(4):795-800. PMID: 1550123Free PMC Article

Clinical prediction guides

Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network.
Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Review of mucopolysaccharidosis diseases at the Queen Sirikit National Institute of Child Health in the past 15 years.
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Yang CF, Wu JY, Lin SP, Tsai FJ
J Formos Med Assoc 2001 Dec;100(12):820-3. PMID: 11802522
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C
J Biol Chem 1994 Apr 1;269(13):9638-43. PMID: 8144552
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Jin WD, Jackson CE, Desnick RJ, Schuchman EH
Am J Hum Genet 1992 Apr;50(4):795-800. PMID: 1550123Free PMC Article

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