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Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

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JIMD Reports - Volume 10

Part of the book series: JIMD Reports ((JIMD,volume 10))

Abstract

Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believed, for inborn errors of metabolism in general, that early diagnosis and management is of paramount importance for improving the prognosis of the disease. The objective of this study was to identify specific populations at risk of suffering from Hunter syndrome. Urine samples were obtained from children between the ages of 0 to 18, belonging to known risk groups of mucopolysaccharidosis (MPS) type II, for the semi-quantitative (GAG test) and quantitative determination of glycosaminoglycans (GAG). One case of Hunter syndrome was found among the 130 samples that were collected and analysed. This study supports the feasibility of early diagnosis and the usefulness of screening tests for MPS II in specific paediatric populations.

Competing interests: None declared

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References

  • Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R et al (2010) First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under the age of 5: case observations from the Hunter Outcome Survey (HOS). Eur J Med Gener 53:371–377

    Article  Google Scholar 

  • Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28(6):1011–1017

    Article  PubMed  CAS  Google Scholar 

  • Baldellou Vázquez A, García Jiménez MC (2006) Diagnóstico de la mucopolisacaridosis II (síndrome de Hunter) en atención primaria. Acta Pediatr Esp 64(10):482–485

    Google Scholar 

  • Burton BK, Giugliani R (2012) Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171(4):631–639

    Article  PubMed  CAS  Google Scholar 

  • Demitsu T, Kakurai M, Okubo Y et al (1999) Skin eruption as the presenting sign of Hunter syndrome IIB. Clin Exp Dermatol 24:179–182

    Article  PubMed  CAS  Google Scholar 

  • del Toro-Riera M (2007) Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry]. Rev Neurol 19;44(Suppl 1):S13–S17.

    Google Scholar 

  • Finn CT, Vedolin L, Schwartz IV et al (2008) Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl 97(457):61–68

    Article  PubMed  Google Scholar 

  • Gelb MH, Turecek F, Scott CR, Chamoles NA (2006) Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 29:397–404

    Article  PubMed  CAS  Google Scholar 

  • González-Meneses López A, Barcia Ramírez A, Díaz Rodríguez JL (2010) Action protocol in mucopolysaccharidosis. Protoc diagn ter pediatr 1:24–36

    Google Scholar 

  • Guelbert N, Amartino H, Arberas C et al (2011) Guideline for diagnosis, follow-up and treatment of mucopolysaccharidoses type II or Hunter disease. Arch Argent Pediatr 109(2):175–181

    Google Scholar 

  • Gutierrez-Solana LG (2008) Neurological manifestations of Hunter syndrome. Rev Neurol 47(suppl 2):S9–S13

    Google Scholar 

  • Holt JB, Poe MD, Escolar ML (2011a) Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics 127(5):e1258–1265

    Article  PubMed  Google Scholar 

  • Holt J, Poe MD, Escolar ML (2011b) Early clinical markers of central nervous system involvement in mucopolysaccharidosis Type II. J Pediatrics 159(2):320–326.e2

    Article  Google Scholar 

  • Imarzumi M, Gushi K, Kriwit WI (1994) Long term effects of bone marrow transplant for inborn errors of metabolism, a study of four patients with lysosomal storage diseases. Acta Paediatr 36:30–36

    Article  Google Scholar 

  • Jones SA, Almassy Z, Beck M et al (2009) 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 32(4):534–543

    Article  PubMed  CAS  Google Scholar 

  • Kampmann C, Beck M, Morin I, Loehr JP (2011) Prevalence and characterization of cardiac involvement in hunter syndrome. J Pediatr 159(2):327–331.e2

    Article  PubMed  Google Scholar 

  • Kliegman RM, Stanton B, St. Geme J, Schor N, Behrman RE (1996) Nelson Textbook of Pediatrics, 19th Edition. W.B. Saunders, Philadelphia

    Google Scholar 

  • Kwon JY, Ko K, Sohn YB et al (2011) High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am J Med Genet A, Part A 155(6):1329–1335

    Article  Google Scholar 

  • Lage S, Prieto JA, Andrade F, Sojo A, Sanjurjo P, Aldámiz-Echevarría LJ (2011) Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG test. J Clin Lab Anal 25:179–184

    Article  PubMed  CAS  Google Scholar 

  • Lin HY, Lin SP, Chuang CK et al (2009) Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004. Am J Med Genet A 149A(5):960–964

    Article  PubMed  Google Scholar 

  • Lonergan C, Payne AR, Wilson WG, Patterson JW, English JC III (2004) What syndrome is this? Hunter syndrome. Pediatr Dermatol 21:679–681

    Article  PubMed  Google Scholar 

  • Lyon G, Kolodny EH, Pastores GM (2006) Neurology of hereditary metabolic diseases of children, 3rd edn. Mc Graw Hill, New York

    Google Scholar 

  • Manara R, Priante E, Grimaldi M et al (2011) Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 34:763–780

    Article  PubMed  Google Scholar 

  • Martin R, Beck M, Eng C et al (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter Syndrome). Pediatrics 121:377–386

    Article  Google Scholar 

  • Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J (2004) Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46(8):666–672

    Article  PubMed  Google Scholar 

  • Marsden D, Levy H (2010) Newborn screening of lysosomal storage disorders. Clin Chem 56:1071–1079

    Article  PubMed  CAS  Google Scholar 

  • Mendelson NJ, Harmatz P, Bodamer O et al (2010) Importance of surgical history in diagnosing mucopolysccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey. Genet Med 12:816–822

    Article  Google Scholar 

  • Muenzer J, Beck M, Giugliani R et al (2011a) Idursulfase treatment of Hunter syndrome in children before the age of 6: results from the Hunter Outcome Survey. Genet Med 13:102–109

    Article  PubMed  CAS  Google Scholar 

  • Muenzer J, Beck M, Eng CM et al (2011b) Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 13:95–101

    Article  PubMed  CAS  Google Scholar 

  • Muenzer J, Gucsavas-Calikoglu M, McCandless SE et al (2007) A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 90:329–337

    Article  PubMed  CAS  Google Scholar 

  • Muenzer J, Wraith JE, Beck M et al (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465–473

    Article  PubMed  CAS  Google Scholar 

  • Muenzer J, Beck M, Eng CM et al (2009) Multidisciplinary management of Hunter syndrome. Pediatrics 124:e1228–e1239

    Article  PubMed  Google Scholar 

  • Nelson J, Crowhurst J, Carey B, Greed L (2003) Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 123A(3):310–313

    Article  PubMed  Google Scholar 

  • Sista R, Eckhardt AE, Wang T, Séllos-Moura M, Pamula VK (2011) Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics. Clin Chim Acta 412(19–20):1895–1897

    Article  PubMed  CAS  Google Scholar 

  • Scarpa M, Almassy Z, Beck M et al (2011) Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 6:72

    Article  PubMed  Google Scholar 

  • Schulze-Frenking G, Jones SA, Roberts J et al (2011) Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis 34:203–208

    Article  PubMed  CAS  Google Scholar 

  • Schwartz IV, Ribero MG, Mota JG et al (2007) A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr 96:63–70

    Article  Google Scholar 

  • Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B (2012) Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. Acta Paediatr 101:e42–e47

    Article  PubMed  CAS  Google Scholar 

  • Vieira T, Schwartz I, Munoz V et al (2008) Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A 146A:1741–1747

    Article  PubMed  Google Scholar 

  • Voznyi YK, Keulemans JLM, Bayer EM, van Diggelen OP (2001) A fluorogenic test for the diagnosis of MPS II (Hunter disease). J Inher Metab Dis 24:675–680

    Article  PubMed  CAS  Google Scholar 

  • Wolfe BJ, Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH (2011) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). Anal Chem 83(3):1152–1156

    Article  PubMed  CAS  Google Scholar 

  • Working Group for Rare Diseases (2011) Guidelines for the diagnosis, monitoring and treatment of mucopolysaccharidosis type II (MPS II) Hunter's Disease. Arch Argent Pediatr 109:175–181

    Google Scholar 

  • Wraith JE, Scarpa M, Beck M et al (2008a) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167:267–277

    Article  PubMed  CAS  Google Scholar 

  • Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J (2008b) Initial report from the Hunter Outcome Survey. Genet Med 10:508–516

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neuropaediatric Unit, Hospital Infantil Universitario Niño Jesús, Menéndez Pelayo 65, 28009, Madrid, Spain

    Laura López-Marín, Luis G. Gutiérrez-Solana, Anna Duat Rodríguez & Verónica Cantarín Extremera

  2. Metabolism Laboratory, Hospital de Cruces, Plaza de Cruces s/n, 48903, Barakaldo, Spain

    Luis Aldamiz-Echevarria Azuara

  3. Neuropaediatric Unit, Hospital 12 de Octubre, Avda. de Córdoba s/n, 28041, Madrid, Spain

    Rogelio Simón de las Heras

Authors
  1. Laura López-Marín
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  2. Luis G. Gutiérrez-Solana
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  3. Luis Aldamiz-Echevarria Azuara
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  4. Rogelio Simón de las Heras
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  5. Anna Duat Rodríguez
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  6. Verónica Cantarín Extremera
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Corresponding author

Correspondence to Laura López-Marín .

Editor information

Editors and Affiliations

  1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Schöpfstr. 41, Innsbruck, A-6020, Austria

    Johannes Zschocke

  2. Washington State University, Clinical Pharmacology Unit, Division of Health Sciences, E. Spokane Falls Blvd. 412, Spokane, 99210-1495, Washington, USA

    K Michael Gibson

  3. , Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom

    Garry Brown

  4. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Geert Grooteplein 9, Nijmegen, 6500 HB, Netherlands

    Eva Morava

  5. Heidelberg University Hospital, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Verena Peters

Additional information

Communicated by: Ed Wraith

Synopsis

Synopsis

One case of Hunter syndrome was found among 109 patients with hernias in the first screening study in Europe aimed at the early detection of MPS II.

All authors have made a substantial contribution to the study and all have approved the final draft.

The author who serves as guarantor for the article is Laura López-Marín.

The authors received an unrestricted educational grant from Shire Pharmaceuticals Spain. Medical writing support was provided by Esther Pellicer and Adelphi and supported by Shire Pharmaceuticals Spain.

The authors confirm independence from the sponsors; the content of this article has not been influenced by the sponsors.

This study was conducted in compliance with the recommendations of the Declaration of Helsinki and the Good Clinical Practice (GCP) Guidelines. It was submitted to the appropriate Independent Ethics Committee for approval and complied with Spanish Act No. 15/1999 on Personal Data Protection in relation to the confidentiality of patient data. In all cases, signed informed consent was obtained from patients and/or their parents or guardians.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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López-Marín, L., Gutiérrez-Solana, L.G., Azuara, L.AE., de las Heras, R.S., Rodríguez, A.D., Extremera, V.C. (2012). Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 10. JIMD Reports, vol 10. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_204

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  • DOI: https://doi.org/10.1007/8904_2012_204

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-37333-6

  • Online ISBN: 978-3-642-37334-3

  • eBook Packages: MedicineMedicine (R0)

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