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Mucopolysaccharidosis(MPS)

MedGen UID:
7733
Concept ID:
C0026703
Disease or Syndrome
Synonyms: MPS; Mucopolysaccharidoses
SNOMED CT: Mucopolysaccharidosis (11380006); MPS - Mucopolysaccharidosis (11380006)
 
Monarch Initiative: MONDO:0019249
OMIM® Phenotypic series: PS607014
Orphanet: ORPHA79213

Definition

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. [from NCI]

Professional guidelines

PubMed

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group
Orphanet J Rare Dis 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. PMID: 36303195Free PMC Article
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
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S
Int J Mol Sci 2020 Feb 23;21(4) doi: 10.3390/ijms21041517. PMID: 32102177Free PMC Article

Recent clinical studies

Etiology

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group
Orphanet J Rare Dis 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. PMID: 36303195Free PMC Article
Moretto A, Bosatra MG, Marchesini L, Tesoro S
Ital J Pediatr 2018 Nov 16;44(Suppl 2):116. doi: 10.1186/s13052-018-0554-1. PMID: 30442160Free PMC Article
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
Bigger BW, Begley DJ, Virgintino D, Pshezhetsky AV
Mol Genet Metab 2018 Dec;125(4):322-331. Epub 2018 Aug 10 doi: 10.1016/j.ymgme.2018.08.003. PMID: 30145178
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

Kumar P, Das PC, Das A
JAMA Dermatol 2022 Dec 1;158(12):1438. doi: 10.1001/jamadermatol.2022.4049. PMID: 36260294
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
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
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S
Mol Genet Metab 2017 Jan-Feb;120(1-2):78-95. Epub 2016 Nov 29 doi: 10.1016/j.ymgme.2016.11.007. PMID: 27979613Free PMC Article
Harmatz P, Shediac R
Front Biosci (Landmark Ed) 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. PMID: 27814620

Therapy

Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR
Genet Med 2023 Feb;25(2):100330. Epub 2022 Nov 29 doi: 10.1016/j.gim.2022.10.012. PMID: 36445366Free PMC Article
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
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
Moretto A, Bosatra MG, Marchesini L, Tesoro S
Ital J Pediatr 2018 Nov 16;44(Suppl 2):116. doi: 10.1186/s13052-018-0554-1. PMID: 30442160Free PMC Article
BioDrugs 2002;16(4):316-8. doi: 10.2165/00063030-200216040-00009. PMID: 12196045

Prognosis

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
Vasilev F, Sukhomyasova A, Otomo T
Int J Mol Sci 2020 Jan 9;21(2) doi: 10.3390/ijms21020421. PMID: 31936524Free PMC Article
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
Harmatz P, Shediac R
Front Biosci (Landmark Ed) 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. PMID: 27814620
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513

Clinical prediction guides

Leal AF, Alméciga-Díaz CJ, Tomatsu S
Int J Mol Sci 2023 Nov 9;24(22) doi: 10.3390/ijms242216148. PMID: 38003337Free PMC Article
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
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
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G
Front Biosci (Landmark Ed) 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. PMID: 27100513
Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S
Mol Genet Metab 2013 Sep-Oct;110(1-2):54-64. Epub 2013 Apr 10 doi: 10.1016/j.ymgme.2013.04.002. PMID: 23665161Free PMC Article

Recent systematic reviews

Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1225-1235. Epub 2021 Jul 19 doi: 10.1515/jpem-2020-0742. PMID: 34271605
Giugliani R, Harmatz P, Lin SP, Scarpa M
Orphanet J Rare Dis 2020 Apr 19;15(1):97. doi: 10.1186/s13023-020-01368-x. PMID: 32306998Free PMC Article
Dornelles AD, Artigalás O, da Silva AA, Ardila DLV, Alegra T, Pereira TV, Vairo FPE, Schwartz IVD
PLoS One 2017;12(8):e0184065. Epub 2017 Aug 31 doi: 10.1371/journal.pone.0184065. PMID: 28859139Free PMC Article
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
Gimovsky AC, Luzi P, Berghella V
Am J Obstet Gynecol 2015 Mar;212(3):281-90. Epub 2014 Oct 8 doi: 10.1016/j.ajog.2014.10.007. PMID: 25305402

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