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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

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 IVA: Diagnosis, Treatment, and Management.
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
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

Recent clinical studies

Etiology

Sanfilippo syndrome: consensus guidelines for clinical care.
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
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
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mohamed S, He QQ, Singh AA, Ferro V
Adv Carbohydr Chem Biochem 2020;77:71-117. Epub 2019 Oct 26 doi: 10.1016/bs.accb.2019.09.001. PMID: 33004112
Anesthesiological risks in mucopolysaccharidoses.
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
Mucopolysaccharidosis type I.
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

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
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J
J Inherit Metab Dis 2021 Jan;44(1):129-147. Epub 2020 Sep 28 doi: 10.1002/jimd.12316. PMID: 32944950Free PMC Article
Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.
Hampe CS, Eisengart JB, Lund TC, Orchard PJ, Swietlicka M, Wesley J, McIvor RS
Cells 2020 Aug 5;9(8) doi: 10.3390/cells9081838. PMID: 32764324Free 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

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
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J
J Inherit Metab Dis 2021 Jan;44(1):129-147. Epub 2020 Sep 28 doi: 10.1002/jimd.12316. PMID: 32944950Free 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
Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M
Orphanet J Rare Dis 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. PMID: 28619065Free PMC Article
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092

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
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-Plus Syndrome.
Vasilev F, Sukhomyasova A, Otomo T
Int J Mol Sci 2020 Jan 9;21(2) doi: 10.3390/ijms21020421. PMID: 31936524Free 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 type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092

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
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J
Clin Genet 2019 Oct;96(4):281-289. Epub 2019 Jul 2 doi: 10.1111/cge.13583. PMID: 31194252Free PMC Article
Glycosaminoglycans and mucopolysaccharidosis type III.
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
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
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

Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.
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
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
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
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
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
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
Lysosomal storage disease as an etiology of nonimmune hydrops.
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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