“Patients with MPS have a complicated multiorgan disorder and need to be followed with accurate protocols by an expert multidisciplinary team.” –Dr Rossella Parini

Genetics Symposium

The full-day meeting in October 2020, Sydney composed of lectures by experts and interactive workshops to discuss the value and relevance of genetic testing to General Paediatricians, and hands-on tips on genetic counselling.

Learn more from the recorded lectures below.

View the highlights of the Genetics in Practice for Paediatricians meeting

Watch the highlights from our meeting and the key take away messages for our meeting attendees.

“I’ve learned more about genetic testing and how to incorporate it into my general practice”
Tips for genetic counselling for the family

Dr. Jacqui Russell, Metabolic Nurse Practitioner

A seasoned genetic counseller shares five key things to tell a family before ordering a genetic test with reference to various case studies

“The tricky thing is about the consent. You need to get good consent from the parent before ordering the test and if this is done it will make everybody’s job easier”
How to diagnose and manage MPS IVA

A/Prof. Carolyn Ellaway, Clinical & Metabolic Geneticist

Learn about MPS IVA, its clinical and skeletal manifestations, the pathway to diagnosis, management, and the impact that it can have on the patient’s quality of life.

“As the disease progresses, there are more and more red flags and I urge to start thinking about MPS disorders if you have not seen a case before”
Learn about the pathway to diagnosing MPS

Dr. Kaustuv Bhattacharya, Metabolic Paediatrician in Genetic Metabolic Disorders

Explore the clinical presentations of MPS, the process to diagnosis which includes the use of metabolic screening and how to interpret evidence obtained from genetic testing.

“A brief summary would be to do some baseline tests which will incorporate electrolytes and simple chemistry, and maybe some imaging, metabolic screening and genetic testing”

Resource library

MANAGEMENT GUIDELINES

Mucopolysaccharidosis (MPS) specific

MPS I

Arn P, Whitley C, Wraith JE, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012;47(3):477-484. doi:10.1016/j.jpedsurg.2011.09.042. PubMed PMID: 22424341
Beck M, Arn P, Giugliani R, et al. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014;16(10):759-765. doi:10.1038/gim.2014.25. PubMed Central PMCID: PMC4189384
Cox-Brinkman J, Timmermans RG, Wijburg FA, et al. Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe. J Inherit Metab Dis. 2007;30(6):984. PubMed PMID: 17879143
de Ru MH, Boelens JJ, Das AM, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011;10;6:55. doi:10.1186/1750-1172-6-55. PubMed PMID: 21831279
Felice T, Murphy E, Mullen MJ, Elliott PM. Management of aortic stenosis in mucopolysaccharidosis type I. Int J Cardiol. 2014 Apr 1;172(3):e430-e431. doi:10.1016/j.ijcard.2013.12.233. PubMed PMID: 24502875

Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633-1644. doi:10.2147/OPTH.S78368. PubMed PMID: 26379420
Giugliani R, Federhen A, Muñoz Rojas MV, et al. [Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. Rev Assoc Med Bras. 2010;56(3):271-277. PubMed PMID: 20676532
Langereis EJ, Borgo A, Crushell E, et al. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis. 2013;8:155. doi:10.1186/1750-1172-8-155. PubMed PMID: 24088413
Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19-29. doi:10.1542/peds.2008-0416. PubMed PMID: 19117856
Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab. 2007;91(1):37-47. PubMed PMID: 17336562
Shapiro EG, Nestrasil I, Rudser K, et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015;116(1-2):61-68. doi:10.1016/j.ymgme.2015.06.002. PubMed PMID: 26095521

MPS II

Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171(4):631-639. doi: 10.1007/s00431-012-1703-y. PubMed PMID: 22383073
Giugliani R, Federhen A, Muñoz Rojas MV, et al. [Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. Rev Assoc Med Bras. 2010;56(3):271-277. PubMed PMID: 20676532
Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol. 2010;33(4):589-604. PubMed PMID: 21637564
Giugliani R, Villarreal ML, Valdez CA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315-329. PubMed PMID: 25071396
Guillén-Navarro E, Blasco AJ, Gutierrez-Solana LG, et al. [Clinical practice guideline for the management of Hunter syndrome. Hunter España working group]. Med Clin (Barc). 2013;141(10):453.e1-e13. doi:10.1016/j.medcli.2013.07.010. PubMed PMID: 24060500
Jones SA, Almássy Z, Beck M, et al. Mortality and cause of death in mucopolysaccharidosis type II: a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2009;32(4):534-543. doi:10.1007/s10545-009-1119-7. PubMed PMID: 19597960

Lampe C, Bosserhoff AK, Burton BK, et al. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. J Inherit Metab Dis. 2014;37(5):823-829. doi:10.1007/s10545-014-9686-7. PubMed PMID: 24596019
Malik V, Nichani J, Rothera MP, et al. Tracheostomy in mucopolysaccharidosis type II (Hunter’s Syndrome). Int J Pediatr Otorhinolaryngol. 2013;77(7):1204-1208. doi:10.1016/j.ijporl.2013.05.002. PubMed PMID: 23726952
Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239. doi:10.1542/peds.2008-0999. PubMed PMID: 19901005
Muenzer J, Bodamer O, Burton B, et al. The role of enzyme replacement therapy in severe Hunter syndrome: an expert panel consensus. Eur J Pediatr. 2012;171(1):181-188. doi:10.1007/s00431-011-1606-3. PubMed PMID: 22037758
Scarpa M, Almássy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72. doi:10.1186/1750-1172-6-72. PubMed PMID: 22059643
Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167(3):267-277. PubMed PMID: 18038146
Yund B, Rudser K, Ahmed A, et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab. 2015;114(2):170-177. doi:10.1016/j.ymgme.2014.12.299. PubMed PMID: 25541100

MPS III

Delaney KA, Rudser KR, Yund BD, et al. Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 2014;13:129-137. doi:10.1007/8904_2013_269. PubMed PMID: 24190801

de Ruijter J, Broere L, Mulder MF, et al. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. 2014 May;37(3):447-454. doi:10.1007/s10545-013-9658-3. PubMed PMID: 24173409

MPS IVA/ Morquio A

Aslam R, van Bommel AC, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59-65. doi:10.1007/8904_2012_179. PubMed PMID: 23430548
Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201-210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
Chaudhuri S, Duggappa AK, Mathew S, Venkatesh S. Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist. J Anaesthesiol Clin Pharmacol. 2013;29(2):258-261. doi:10.4103/0970-9185.111666. PubMed PMID: 23878456
Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11-18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
Harmatz PR, Mengel KE, Giugliani R, et al. Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. Mol Genet Metab. 2015;114(2):186-194. doi:10.1016/j.ymgme.2014.10.015. PubMed PMID: 25582974
Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61. doi:10.1016/j.ymgme.2013.01.021. PubMed PMID: 23452954
Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309-322. doi:10.1007/s10545-012-9459-0. PubMed PMID: 22358740
Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A(1):11-25. PubMed PMID: 25346323
Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37(6):979-990. doi:10.1007/s10545-014-9715-6. PubMed PMID: 24810369

Hendriksz CJ, Giugliani R, Harmatz P, et al. Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114(2):178-185. PubMed PMID: 25284089
Hendriksz CJ, Lavery C, Coker M, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32. doi:10.1186/1750-1172-9-32. PubMed PMID: 24602160
Montaño AM, Tomatsu S, Brusius A, et al. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286-1295. doi:10.1002/ajmg.a.32281. PubMed PMID: 18412124
Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339-355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22(9):901-907. doi:10.1111/j.1460-9592.2012.03904.x. PubMed PMID: 22738181
Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096-7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219. doi:10.1007/s10545-012-9563-1. PubMed PMID: 23197104
White KK, Jester A, Bache CE, et al. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8(4):295-304. doi:10.1007/s11832-014-0601-4. PubMed PMID: 25001525
Wood TC, Harvey K, Beck M, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36(2):293-307. doi:10.1007/s10545-013-9587-1. PubMed PMID: 23371450

MPS VI

Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201-210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8. PubMed PMID 21744090
Decker C, Yu ZF, Giugliani R, Schwartz IV, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3(2):89-100. PubMed PMID: 20634905
Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90(7):595-602. doi:10.1111/j.1755-3768.2011.02280.x. PubMed PMID: 22136369
Furujo M, Kubo T, Kosuga M, Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab. 2011;104(4):597-602. doi:10.1016/j.ymgme.2011.08.029. PubMed PMID: 21930407
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418. doi:10.1542/peds.2006-2184. PubMed PMID: 17671068
Harmatz P, Giugliani R, Schwartz IVD, et al; for MPS VI Study Group. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab. 2008;94(4):469-475. doi:10.1016/j.ymgme.2008.04.001. PubMed PMID: 18502162
Harmatz P, Giugliani R, Schwartz I, et al; for MPS VI Phase 3 Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on, open-label extension study. J Pediatr. 2006;148(4):533-539. doi:10.1016/j.jpeds.2005.12.014. PubMed PMID: 16647419
Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed). 2016;21(8):1502-1515. doi:10.2741/13097.

Harmatz P, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis. 2010;33(1):51-60. doi:10.1007/s10545-009-9007-8. PubMed PMID: 20140523
McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age—a sibling control study. Clin Genet. 2010;77(5):492-498. doi:10.1111/j.1399-0004.2009.01324.x. PubMed PMID: 19968667
Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). JIMD Rep. 2015;18:1-11. doi:10.1007/8904_2014_333. PubMed PMID: 25518809
Sohn BS, Park SW, Kim S, et al. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type vi patient previously with bone marrow transplantation. Am J Med Genet A. 2012;158A(5):1158-1163. doi:10.1002/ajmg.a.35263. PubMed PMID: 22495825
Solanki GA, Alden TD, Burton BK, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107:15-24. doi:10.1016/j.ymgme.2012.07.018. PubMed PMID: 22938833
Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Am J Med Genet A. 2005;134A(2):144-150. doi:10.1002/ajmg.a.30579. PubMed PMID: 15690405
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. doi:10.1186/1750-1172-5-5. PMID: 20385007
Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219. doi:10.1007/s10545-012-9563-1. PubMed PMID: 23197104
Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012;106(1):73-82. doi:10.1016/j.ymgme.2012.02.005. PubMed PMID: 22405600

MPS VII

Bernsen PLJA, Wevers RA, Gabreëls FJM, Lamers KJB, Sonnen AEH, Schuurmans Stekhoven JH Phenotypic expression in mucopolysaccharidosis VII. J Neurol Neurosurg Psychiatry. 1987;50(6):699-703. Pubmed PMID 3112309
Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H. Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik. 1974;23(2):149-158. Pubmed PMID 4277583

Gniadek TJ, Singer N, Barker NJ, et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). Cardiovasc Pathol. 2015;24(5):322-326. doi:10.1016/j.carpath.2015.06.001. Pubmed PMID 26141114
Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009;30(4):511-519. doi:10.1002/humu.20828. Pubmed PMID 19224584

MPS IX

Imundo L, Leduc CA, Guha S, et al. A complete deficiency of hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis. 2011;34(5):1013-1022. doi:10.1007/s10545-011-9343-3. Pubmed PMID 21559944

Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996;335(14):1029-1033. Pubmed PMID 8793927

Specialty specific

General MPS recommendations:

Beck M, Muenzer J, Scarpa M. Evaluation of disease severity in mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):39-46. doi:10.3233/PRM-2010-0100. PubMed PMID: 21791828

Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91-95. Pubmed PMID 21378615
Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41-v48. PubMed PMID: 22210670

Anaesthesiology

Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11-18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. Pediatric Anesthesia. 2012;22(8):737-744. doi:10.1111/j.1460-9592.2012.03825.x. Pubmed PMID: 22381044
Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet Part A. 2014;9999A:1-15. doi:10.1002/ajmg.a.36833. Pubmed PMID: 25346323
Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154-159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
Muhlebach MS, Shaffer CB, Georges L, Abode K, Muenzer J. Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS). Pediatr Pulmonol. 2013;48(6):601-607. doi:10.1002/ppul.22629. PubMed PMID: 22949390
Sahin A, Dal D, Ocal T, Aypar U. Airway management of mucopolysaccharidosis with cervical spine involvement. Neurosciences (Riyadh). 2005;10(1):103-105. PubMed PMID: 22473199

Sam JA, Baluch AR, Niaz RS, Lonadier L, Kaye AD. Mucopolysaccharidoses: anesthetic considerations and clinical manifestations. Middle East J Anaesthesiol. 2011;21(2):243-250. PubMed PMID: 22435276
Solanki GA, Alden TD, Burton BK, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107:15-24. doi:10.1016/j.ymgme.2012.07.018. Pubmed PMID: 22938833
Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22(9):901-907. doi:10.1111/j.1460-9592.2012.03904.x. Pubmed PMID: 22738181
Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096-7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
Vitale MG, Skaggs DL, Pace GI, et al. Delphi Consensus Report: Best practices in intraoperative neuromonitoring in spine deformity surgery: development of an intraoperative checklist to optimize response. Spine Deformity. 2014;2(5):333-339. doi:10.1016/j.jspd.2014.05.003.
Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219. doi:10.1007/s10545-012-9563-1. Pubmed PMID: 23197104
Yeung AH, Cowan MJ, Horn B, Rosbe KW. Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 2009;135(1):73-79. doi:10.1001/archoto.2008.515. PubMed PMID: 19153310

Cardiology

Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8. Pubmed PMID 21744090
Felice T, Murphy E, Mullen MJ, Elliott PM. Management of aortic stenosis in mucopolysaccharidosis type I. Int J Cardiol. 2014 Apr 1;172(3):e430-e431. doi:10.1016/j.ijcard.2013.12.233. PubMed PMID: 24502875

Fesslová V, Corti P, Sersale G, et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young. 2009;19(2):170-178. doi:10.1017/S1047951109003576. Pubmed PMID: 19195419
Gniadek TJ, Singer N, Barker NJ, et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). Cardiovasc Pathol. 2015;24(5):322-326. doi:10.1016/j.carpath.2015.06.001. Pubmed PMID 26141114
Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr. 2002;91(7):799-804. Pubmed PMID: 12200906

ENT/ Otolaryngology

Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201-210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A(1):11-25. PubMed PMID: 25346323
Lin HY, Shih SC, Chuang CK, et al. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses. Mol Genet Metab. 2014;111(4):533-538. doi:10.1016/j.ymgme.2014.02.003. PubMed PMID: 24594444
Malik V, Nichani J, Rothera MP, et al. Tracheostomy in mucopolysaccharidosis type II (Hunter’s Syndrome). Int J Pediatr Otorhinolaryngol. 2013;77(7):1204-1208. PubMed PMID: 23726952
Martins AM, Dualibi AP, Norato D, et al. Guidelines for the management of mucopolysaccharidosis type I. J Pediatr. 2009;155(4)(suppl 2):S32-S46. doi:10.1016/j.jpeds.2009.07.005. Pubmed PMID: 19765409
Mesolella M, Cimmino M, Cantone E, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33(4):267-272. PubMed PMID: 24043915

Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154-159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19-29. doi:10.1542/peds.2008-0416. PubMed PMID: 19117856
Saeed H, Nichani J, Melling C, et al. Feasibility of cochlear implantation in mucopolysaccharidosis. Int J Pediatr Otorhinolaryngol. 2013;77(8):1255-1258. PubMed PMID: 23773334
Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096-7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219. doi:10.1007/s10545-012-9563-1. Pubmed PMID: 23197104
Wold SM, Derkay CS, Darrow DH, Proud V. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2010;74(1):27-31. doi:10.1016/j.ijporl.2009.09.042. PubMed PMID: 19931921

Ophthalmology

Ashworth J, Flaherty M, Pitz S, Ramlee A. Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis. Acta Ophthalmol. 2015;93(2):e111-e117. doi:10.1111/aos.12607. PubMed PMID: 25688487
Ashworth JL, Kruse FE, Bachmann B, et al. Ocular manifestations in the mucopolysaccharidoses: a review. Clin Experiment Ophthalmol. 2010;38(suppl 1):12-22. doi:10.1111/j.1442-9071.2010.02364.x
Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90(7):595-602. doi:10.1111/j.1755-3768.2011.02280.x. Pubmed PMID: 22136369

Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633-1644. doi:10.2147/OPTH.S78368. PubMed PMID: 26379420
Ferrari S, Ponzin D, Ashworth JL, et al. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol. 2011;95(5):613-619. doi:10.1136/bjo.2010.179937. PubMed PMID: 20852315
Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v34-v40. PubMed PMID: 22210668

Neurology

Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 2009;15(8):402-404. Pubmed PMID: 19955999
Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11-18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
Delaney KA, Rudser KR, Yund BD, Whitley CB, Haslett PA, Shapiro EG. Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 2014;13:129-137. doi:10.1007/8904_2013_269. PubMed PMID: 24190801
Kakkis ED, Neufeld EF. The mucopolysaccharidoses. In: Berg BO, ed. Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141-1166.
Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(2):109-118. doi:10.3233/PRM-2010-0115. Pubmed PMID: 21791838
Leone A, Rigante D, Amato DZ, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31(2):203-212. doi:10.1007/s00381-014-2578-1. PubMed PMID: 25358811

Sganzerla EP, Giussani C, Grimaldi M, et al. Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 2014;40:313-331. doi:10.1007/978-3-319-01065-6_11. PubMed PMID: 24265052
Shapiro EG, Nestrasil I, Rudser K, et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol Genet Metab. 2015;116(1-2):61-68. doi:10.1016/j.ymgme.2015.06.002. PubMed PMID: 26095521
Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339-355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
Yund B, Rudser K, Ahmed A, et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab. 2015;114(2):170-177. doi:10.1016/j.ymgme.2014.12.299. PubMed PMID: 25541100
Yuen A, Dowling G, Johnstone B, et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol. 2007 Mar;22(3):260-263. PubMed PMID: 17621494
Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2013;34(1):5-13. doi:10.3174/ajnr.A2832. Pubmed PMID: 22790241

Orthopaedics

Aslam R, van Bommel AC, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59-65. doi:10.1007/8904_2012_179. PubMed PMID: 23430548
Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11-18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
Garrido E, Tomé-Bermejo F, Adams CI. Combined spinal arthrodesis with instrumentation for the management of progressive thoracolumbar kyphosis in children with mucopolysaccharidosis. Eur Spine J. 2014;23(12):2751-2757. doi:10.1007/s00586-014-3186-1. PubMed PMID: 24469884.
Leone A, Rigante D, Amato DZ, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31(2):203-212. doi:10.1007/s00381-014-2578-1. PubMed PMID: 25358811
Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19-v25. doi:10.1093/rheumatology/ker397. PubMed PMID: 22210666

Sganzerla EP, Giussani C, Grimaldi M, et al. Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 2014;40:313-331. doi: 10.1007/978-3-319-01065-6_11. PubMed PMID: 24265052
Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339-355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
White KK, Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. 2010;3(1):47-56. doi:10.3233/PRM-2010-0102. PubMed PMID: 21791829
White KK, Jester A, Bache CE. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8(4):295-304. doi:10.1007/s11832-014-0601-4. PubMed PMID: 25001525
White KK, Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg. 2013;21:12-22. doi:10.5435/JAAOS-21-01-12. PubMed PMID: 23281467

Pulmonology

Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201-210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
Chiang J, Raiman J, Cutz E, Solomon M, Dell S. Tachypnea of infancy as the first sign of Sanfilippo syndrome. Pediatrics. 2014;134(3):e884-e888. doi:10.1542/peds.2013-2765. PubMed PMID: 25113300
Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr Suppl. 2008;97(457):57-60. doi:10.1111/j.1651-2227.2008.00650.x. PubMed PMID: 18339190
Kasapkara ÇS, Tümer L, Aslan AT, et al. Home sleep study characteristics in patients with mucopolysaccharidosis. Sleep Breath. 2014;18(1):143-149. doi:10.1007/s11325-013-0862-z. PubMed PMID: 23690022

Lin SP, Shih SC, Chuang CK, et al. Characterization of pulmonary function impairments in patients with mucopolysaccharidoses–changes with age and treatment. Pediatr Pulmonol. 2014;49(3):277-284. doi:10.1002/ppul.22774. PubMed PMID: 23401495
Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154-159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
Sahin A, Dal D, Ocal T, Aypar U. Airway management of mucopolysaccharidosis with cervical spine involvement. Neurosciences (Riyadh). 2005;10(1):103-105. PubMed PMID: 22473199
Wooten WI III, Muenzer J, Vaughn BV, Muhlebach MS. Relationship of sleep to pulmonary function in mucopolysaccharidosis II. J Pediatr. 2013;162(6):1210-1215. doi:10.1016/j.jpeds.2012.11.039. PubMed PMID: 23305961
Yeung AH, Cowan MJ, Horn B, Rosbe KW. Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 2009;135(1):73-79. doi:10.1001/archoto.2008.515. PubMed PMID: 19153310

Rheumatology

Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis [hypothesis]. Pediatr Rheumatol Online J. 2009;7:18. doi:10.1186/1546-0096-7-18. PubMed PMID: 19852785
Coppa GV. Why should rheumatologists be aware of the mucopolysaccharidoses? Rheumatology (Oxford). 2011;50(suppl 5):v1-v3. doi:10.1093/rheumatology/ker391. PubMed PMID: 22210664

Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91-95. PubMed PMID: 21378615
Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19-v25. doi:10.1093/rheumatology/ker397. PubMed PMID: 22210666
Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-v12. PubMed PMID: 22210669

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