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Deficiency, Sulfoiduronate Sulfatase

MedGen UID:
404708
•Concept ID:
C2718304
•
Disease or Syndrome
Synonyms: Deficiency, I2S; Deficiency, Iduronate 2-Sulfatase; Deficiency, Iduronate Sulfatase; I2S Deficiency; Iduronate 2 Sulfatase Deficiency; Iduronate 2-Sulfatase Deficiency; Iduronate Sulfatase Deficiency; Sulfoiduronate Sulfatase Deficiency

Professional guidelines

PubMed

Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G
Pediatr Endocrinol Diabetes Metab 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. PMID: 34743503Free PMC Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article

Recent clinical studies

Etiology

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo.
Ibraheim R, Tai PWL, Mir A, Javeed N, Wang J, Rodríguez TC, Namkung S, Nelson S, Khokhar ES, Mintzer E, Maitland S, Chen Z, Cao Y, Tsagkaraki E, Wolfe SA, Wang D, Pai AA, Xue W, Gao G, Sontheimer EJ
Nat Commun 2021 Nov 1;12(1):6267. doi: 10.1038/s41467-021-26518-y. PMID: 34725353Free PMC Article
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free 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
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free PMC Article

Diagnosis

Hunter Syndrome.
Kumar P, Das PC, Das A
JAMA Dermatol 2022 Dec 1;158(12):1438. doi: 10.1001/jamadermatol.2022.4049. PMID: 36260294
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G
Pediatr Endocrinol Diabetes Metab 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. PMID: 34743503Free PMC Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML
Pediatr Int 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. PMID: 25851924
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

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.
Okuyama T, Eto Y, Sakai N, Nakamura K, Yamamoto T, Yamaoka M, Ikeda T, So S, Tanizawa K, Sonoda H, Sato Y
Mol Ther 2021 Feb 3;29(2):671-679. Epub 2020 Sep 30 doi: 10.1016/j.ymthe.2020.09.039. PMID: 33038326Free PMC Article
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
Sonoda H, Morimoto H, Yoden E, Koshimura Y, Kinoshita M, Golovina G, Takagi H, Yamamoto R, Minami K, Mizoguchi A, Tachibana K, Hirato T, Takahashi K
Mol Ther 2018 May 2;26(5):1366-1374. Epub 2018 Mar 6 doi: 10.1016/j.ymthe.2018.02.032. PMID: 29606503Free PMC Article
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.
Lau AA, Hemsley KM
J Mol Med (Berl) 2017 Oct;95(10):1043-1052. Epub 2017 Jun 29 doi: 10.1007/s00109-017-1562-0. PMID: 28660346
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

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
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
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free 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

Clinical prediction guides

Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Consiglieri G, Tucci F, De Pellegrin M, Guerrini B, Cattoni A, Risca G, Scarparo S, Sarzana M, Pontesilli S, Mellone R, Gasperini S, Galimberti S, Silvani P, Filisetti C, Darin S, Forni G, Miglietta S, Santi L, Facchini M, Corti A, Fumagalli F, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Recupero S, Canarutto D, Doglio M, Tedesco L, Volpi N, Rovelli A, la Marca G, Valsecchi MG, Zancan S, Ciceri F, Naldini L, Baldoli C, Parini R, Gentner B, Aiuti A, Bernardo ME
Sci Transl Med 2024 May;16(745):eadi8214. Epub 2024 May 1 doi: 10.1126/scitranslmed.adi8214. PMID: 38691622
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Practical management of behavioral problems in mucopolysaccharidoses disorders.
Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H
Mol Genet Metab 2017 Dec;122S:35-40. Epub 2017 Sep 27 doi: 10.1016/j.ymgme.2017.09.010. PMID: 29170079
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092

Recent systematic reviews

Adenotonsillectomy for the treatment of OSA in children with mucopolysaccharidosis: A systematic review.
Galluzzi F, Garavello W
Sleep Med 2024 Apr;116:7-12. Epub 2024 Feb 18 doi: 10.1016/j.sleep.2024.02.030. PMID: 38402648
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.
Bradley LA, Haddow HRM, Palomaki GE
Genet Med 2017 Nov;19(11):1187-1201. Epub 2017 May 18 doi: 10.1038/gim.2017.30. PMID: 28640238
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
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
Laronidase for treating mucopolysaccharidosis type I.
El Dib RP, Pastores GM
Genet Mol Res 2007 Sep 30;6(3):667-74. PMID: 18050087

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