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Lysosomal storage disease with skeletal involvement

MedGen UID:
994785
•Concept ID:
CN315664
•
Disease or Syndrome
Synonyms: Dysostosis multiplex; dysostosis multiplex; lysosomal storage disease with skeletal involvement
 
Monarch Initiative: MONDO:0800088
Orphanet: ORPHA93448

Professional guidelines

PubMed

Management of women with Gaucher disease in the reproductive age.
Rosenbaum H
Thromb Res 2015 Feb;135 Suppl 1:S49-51. Epub 2015 Feb 9 doi: 10.1016/S0049-3848(15)50443-X. PMID: 25903536
International guidelines for the management and treatment of Morquio A syndrome.
Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R
Am J Med Genet A 2015 Jan;167A(1):11-25. Epub 2014 Oct 24 doi: 10.1002/ajmg.a.36833. PMID: 25346323Free PMC Article
Management of bone disease in Gaucher disease type 1: clinical practice.
Giuffrida G, Cappellini MD, Carubbi F, Di Rocco M, Iolascon G
Adv Ther 2014 Dec;31(12):1197-212. Epub 2014 Dec 17 doi: 10.1007/s12325-014-0174-0. PMID: 25515322

Recent clinical studies

Etiology

Mucopolysaccharidosis: A broad review.
Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, Sharma N
Indian J Ophthalmol 2022 Jul;70(7):2249-2261. doi: 10.4103/ijo.IJO_425_22. PMID: 35791104Free PMC Article
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
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Mucopolysaccharidosis type I.
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

Mucopolysaccharidosis: A broad review.
Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, Sharma N
Indian J Ophthalmol 2022 Jul;70(7):2249-2261. doi: 10.4103/ijo.IJO_425_22. PMID: 35791104Free PMC Article
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Cutaneous Manifestations of Mucopolysaccharidoses.
Tran MC, Lam JM
Pediatr Dermatol 2016 Nov;33(6):594-601. Epub 2016 Sep 7 doi: 10.1111/pde.12971. PMID: 27601403
Mucopolysaccharidosis type I.
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
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
Mucopolysaccharidosis type I.
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Orthopaedic aspects of mucopolysaccharidoses.
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Laronidase.
BioDrugs 2002;16(4):316-8. doi: 10.2165/00063030-200216040-00009. PMID: 12196045
Metabolic arthropathies.
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

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
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Cutaneous Manifestations of Mucopolysaccharidoses.
Tran MC, Lam JM
Pediatr Dermatol 2016 Nov;33(6):594-601. Epub 2016 Sep 7 doi: 10.1111/pde.12971. PMID: 27601403
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

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
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
The role of imaging in the skeletal involvement of mucopolysaccharidoses.
Spina V, Barbuti D, Gaeta A, Palmucci S, Soscia E, Grimaldi M, Leone A, Manara R, Polonara G
Ital J Pediatr 2018 Nov 16;44(Suppl 2):118. doi: 10.1186/s13052-018-0556-z. PMID: 30442151Free PMC Article
Storage diseases: diagnostic position.
Goebel HH, Müller HD
Ultrastruct Pathol 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. PMID: 23383614
Metabolic arthropathies.
Timsit MA, Bardin T
Curr Opin Rheumatol 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. PMID: 8068518

Recent systematic reviews

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM, van Kooten HA, van der Beek NAME, van der Ploeg AT, Huidekoper HH, van den Hout JMP
Biomolecules 2023 Sep 19;13(9) doi: 10.3390/biom13091414. PMID: 37759814Free PMC Article
Gaucher: A Systematic Review on Oral and Radiological Aspects.
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article
Hematopoietic stem cell transplantation for Gaucher disease.
Somaraju UR, Tadepalli K
Cochrane Database Syst Rev 2017 Oct 18;10(10):CD006974. doi: 10.1002/14651858.CD006974.pub4. PMID: 29044482Free PMC Article
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884
Gaucher disease and bone manifestations.
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML
Calcif Tissue Int 2014 Dec;95(6):477-94. Epub 2014 Nov 7 doi: 10.1007/s00223-014-9923-y. PMID: 25377906

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