Download PDF
Journal of Pediatric Biochemistry 2016; 06(01): 046-052
DOI: 10.1055/s-0036-1582252
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review

Francesca Falvo
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Simona Sestito
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Angela Nicoletti
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Michele Grisolia
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Italia Mascaro
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Elisa Pascale
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Vincenzo Salpietro
2   Department of Pediatrics, University of Messina, Messina, Italy
3   Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom
,
Agata Polizzi
4   National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
,
Martino Ruggieri
5   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Daniela Concolino
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
› Author Affiliations
Further Information

Publication History

16 December 2015

24 January 2016

Publication Date:
26 April 2016 (online)

    Permissions and Reprints

Abstract

The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders caused by deficiency of enzymes catalyzing the stepwise degradation of glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate, and hyaluronic acid. There are seven groups of MPS, which are MPS-I (MPS-I-H or Hurler syndrome; MPS-I-S or Scheie syndrome; and MPS-I-HS or Hurler–Scheie syndrome), MPS-II (Hunter syndrome), MPS-III (Sanfilippo syndrome types A to D), MPS-IV (Morquio syndrome types A and B), MPS-VI (Maroteaux–Lamy syndrome), MPS-VII (Sly syndrome), and MPS-IX (Natowicz syndrome). All are inherited as autosomal recessive diseases, with the exception of Hunter syndrome, which follows an X-linked recessive inheritance pattern. The MPSs affect multiple organ systems (including bone, heart, and visceral organs), leading to organ failure. Involvement of central nervous system occurs only in the forms with heparan sulfate accumulation, that is, MPS-I, MPS-II, MPS-III, and MPS-VII. Therapy is available for MPS-I, MPS-II, MPS-IV, and MPS-VI. This review provides a case-based overview of the different forms of MPS with neurological involvement.

Keywords

mucopolysaccharidosis - glycosaminoglycans - heparan sulfate - lysosomal storage disorders - neurological - central nervous system
 

  • References

  • 1 Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th ed. Vol. 3. New York, NY: McGraw-Hill; 2001: 3421-3451
    Search in Google Scholar
  • 2 Giugliani R, Carvalho CG, Herber S, de Camargo Pinto LL. Recent advances in treatment approaches of mucopolysaccharidosis VI. Curr Pharm Biotechnol 2011; 12 (6) 956-962
    CrossrefPubMedSearch in Google Scholar
  • 3 Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50 (Suppl. 05) v41-v48
    CrossrefPubMedSearch in Google Scholar
  • 4 Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 2008; 10: e1
    CrossrefPubMedSearch in Google Scholar
  • 5 Haskins M, Casal M, Ellinwood NM, Melniczek J, Mazrier H, Giger U. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr Suppl 2002; 91 (439) 88-97
    PubMedSearch in Google Scholar
  • 6 Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S , et al. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 2006; 14 (7) 846-852
    CrossrefPubMedSearch in Google Scholar
  • 7 Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968; 162 (3853) 570-572
    CrossrefPubMedSearch in Google Scholar
  • 8 Hobbs JR, Hugh-Jones K, Barrett AJ , et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981; 2 (8249) 709-712
    PubMedSearch in Google Scholar
  • 9 Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin Hematol 2010; 47 (1) 59-69
    CrossrefPubMedSearch in Google Scholar
  • 10 Whitley CB, Belani KG, Chang PN , et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 1993; 46 (2) 209-218
    CrossrefPubMedSearch in Google Scholar
  • 11 Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999; 12 (2) 167-176
    CrossrefPubMedSearch in Google Scholar
  • 12 Peters C, Steward CG ; National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31 (4) 229-239
    CrossrefPubMedSearch in Google Scholar
  • 13 Krall WJ, Challita PM, Perlmutter LS, Skelton DC, Kohn DB. Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 1994; 83 (9) 2737-2748
    PubMedSearch in Google Scholar
  • 14 Krivit W, Sung JH, Shapiro EG, Lockman LA. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 1995; 4 (4) 385-392
    CrossrefPubMedSearch in Google Scholar
  • 15 Kierdorf K, Katzmarski N, Haas CA, Prinz M. Bone marrow cell recruitment to the brain in the absence of irradiation or parabiosis bias. PLoS ONE 2013; 8 (3) e58544
    CrossrefPubMedSearch in Google Scholar
  • 16 Prasad VK, Mendizabal A, Parikh SH , et al. Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 2008; 112 (7) 2979-2989
    CrossrefPubMedSearch in Google Scholar
  • 17 Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999; 22 (5) 638-648
    CrossrefPubMedSearch in Google Scholar
  • 18 Boelens JJ, Orchard PJ, Wynn RF. Transplantation in inborn errors of metabolism: current considerations and future perspectives. Br J Haematol 2014; 167 (3) 293-303
    CrossrefPubMedSearch in Google Scholar
  • 19 Brady RO, Yang C, Zhuang Z. An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain. J Inherit Metab Dis 2013; 36 (3) 451-454
    CrossrefPubMedSearch in Google Scholar
  • 20 Tolar J, Grewal SS, Bjoraker KJ , et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 2008; 41 (6) 531-535
    CrossrefPubMedSearch in Google Scholar
  • 21 Ceravolo F, Mascaro I, Sestito S , et al. Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. Ital J Pediatr 2013; 39: 53
    CrossrefPubMedSearch in Google Scholar
  • 22 Tomanin R, Zanetti A, D'Avanzo F , et al. Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. Orphanet J Rare Dis 2014; 9: 129
    CrossrefPubMedSearch in Google Scholar
  • 23 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
    CrossrefPubMedSearch in Google Scholar
  • 24 Kulkarni MV, Williams JC, Yeakley JW , et al. Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging 1987; 5 (5) 317-323
    CrossrefPubMedSearch in Google Scholar
  • 25 Seto T, Kono K, Morimoto K , et al. Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 2001; 50 (1) 79-92
    CrossrefPubMedSearch in Google Scholar
  • 26 Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004; 46 (8) 666-672
    PubMedSearch in Google Scholar
  • 27 Beck M, Wijburg FA, Gal A. Clinical utility gene card for: mucopolysaccharidosis type II. Eur J Hum Genet 2012; 20 (1) 143
    PubMedSearch in Google Scholar
  • 28 Martin R, Beck M, Eng C , et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008; 121 (2) e377-e386
    CrossrefPubMedSearch in Google Scholar
  • 29 Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet 1982; 19 (6) 408-411
    CrossrefPubMedSearch in Google Scholar
  • 30 Manara R, Priante E, Grimaldi M , et al. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 2011; 34 (3) 763-780
    CrossrefPubMedSearch in Google Scholar
  • 31 Lin HY, Lin SP, Chuang CK , et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A 2009; 149A (5) 960-964
    CrossrefPubMedSearch in Google Scholar
  • 32 Concolino D, Muzzi G, Pisaturo L, Piccirillo A, Di Natale P, Strisciuglio P. Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases. Eur J Med Genet 2008; 51 (5) 466-471
    CrossrefPubMedSearch in Google Scholar
  • 33 Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008; 31 (2) 240-252
    CrossrefPubMedSearch in Google Scholar
  • 34 Cheng Y, Verp MS, Knutel T, Hibbard JU. Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis. J Perinat Med 2003; 31 (6) 535-537
    PubMedSearch in Google Scholar
  • 35 Stangenberg M, Lingman G, Roberts G, Ozand P. Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy. Am J Med Genet 1992; 44 (2) 142-144
    CrossrefPubMedSearch in Google Scholar
  • 36 Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet 1993; 52 (3) 517-526
    PubMedSearch in Google Scholar