The Journal of Pediatrics
Volume 155, Issue 4, Supplement , Pages S47-S56 , October 2009

The Brazilian Consensus on the Management of Pompe Disease

  • Juan C. Llerena Jr., MD, PhD

      Affiliations

    • Departamento de Genética Médica, Instituto Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil
    • Corresponding Author InformationReprint requests: Juan Clinton Llerena, Jr, Departamento de Genética Médica, Instituto Fernandes Figueira/FIOCRUZ, Av Rui Barbosa, 716 – Flamengo, CEP 22250-020 Rio de Janeiro RJ, Brazil.
  • ,
  • Dafne Maria Horovitz, MD, PhD

      Affiliations

    • Departamento de Genética Médica, Instituto Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil
  • ,
  • Suely Kazue Nagahashi Marie, PhD

      Affiliations

    • Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo
  • ,
  • Gilda Porta, MD, PhD

      Affiliations

    • Departamento de Pediatria, Faculdade de Medicina da Universidade de São Paulo
  • ,
  • Roberto Giugliani, MD, PhD

      Affiliations

    • Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre – RS
  • ,
  • Maria Verónica Muñoz Rojas, MD

      Affiliations

    • Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre – RS
  • ,
  • Ana Maria Martins, MD, PhD

      Affiliations

    • Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo
  • ,
  • Brazilian Network for Studies in Pompe Disease (ReBrPOM)

      Affiliations

    • Additional members of Brazilian Network for Studies in Pompe Disease (ReBrPOM) available in the Acknowledgments.

References 

  1. Online Mendelian Inheritance in Man (OMIM). Available from: http://www.ncbi.nlm.nih.gov/omim. Accessed July 30, 2008.
  2. Hirschhorn R, Reuser AJJ, et al. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In:  Beaudet A,  Scriver C,  Sly W editor. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001;p. 3389–3410
  3. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004;144:S35–S43
  4. Hagemans MLC, Winkel LPF, Hop WCJ, Reuser AJJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64:2139–2141
  5. Wang S-M, Hou J-M, Lin J-L. A retrospective epidemiological and etiological study of metabolic disorders in children with cardiomypathies. Acta Paediatr Taiwan. 2006;47:83–87
  6. Shin YS. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006;13:115–120
  7. Kishnani PS, Hwu P, Mandel H, Nicolino M, et al. A retrospective multinational, multicenter study of the natural history of infantile Pompe disease. J Pediatr. 2006;148:671–676
  8. Howell RR, Byrne B, Darras BT, Kishnani PS, Nicolino M, van der Ploeg AT. Diagnostic challenges for Pompe disease: an underrecognized cause of floppy baby syndrome. Genet Med. 2006;8:289–296
  9. Kishnani PS ACMG Work Group on Management of Pompe Disease. Pompe disease diagnosis and management guidelines. Genet Med. 2006;8:267–288
  10. Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, et al. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007;37:437–445
  11. Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–317
  12. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109
  13. Marsden D. Infantile-onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005;7:147–150
  14. Ansong A, Li J, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:297–301
  15. Bonatto RC, Fioretto JR, Okoshi K, Matsubara BB, Padovani CR, Manfrin TCR, et al. Percentile curves of normal values of echocardiographic measurements in normal children from the central-southern region of the state of São Paulo, Brazil. Arq Bras Cardiol. 2006;87:651–660
  16. Hoeksma M, Boon M, Koning KEN, Gils LO, Spronsen FJ. Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr. 2007;166:871–874
  17. Fernandez C, Maues de Paula A, Figarella-Branger D, Krahn M, Giorgi R, Chabrol B, et al. Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia. Neurology. 2006;66:1585–1587
  18. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestations and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;1–7
  19. Winkel LPF, Hagemans MLC, van Doorn PA, Loonen MCB, Hop WJC, Reuser AJJ, et al. The natural course of non-classic Pompe's disease: a review of 225 published cases. J Neurol. 2005;252:875–884
  20. Hagemans SPM, van Schie AC, Janssens JW, van Doorn PA, Reuser AJJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007;254:941–945
  21. Pruszczyk AK, Opuchlik A, Lugowska A, Nadaj A, Bojakowski J, Szymanska AT, et al. Juvenile-onset acid maltase deficiency presenting as a rigid spine syndrome. Neuromuscul Disord. 2006;16:282–285
  22. Hagemans MLC, Laforet P, Hop WJC, Merkies ISJ, Van Doorn PA, Reuser AJJ, et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord. 2007;
  23. Pellegrini N, Laforet P, Orlikowski D, Pellegrini M, Caillaud C, Eymard B, et al. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J. 2005;26:1024–1031
  24. Hagemans MLC, Hop WJC, Van Doorn PA, Reuser AJJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006;66:581–583
  25. Amartino H, Painceira D, Pomponio RJ, Niizawa G, Sabio Paz V, Blanco M, et al. Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet. 2006;69:187–188
  26. Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta. 2004;347:97–102
  27. Oba-Shinjo SM, Silva R, Andrade FA, Palmer RE, Pomponio RJ, Ciociola KM, et al. Pompe disease in a Brazilian series: clinical and molecular analysis with identification of nine new mutations. J Neurol. 2009;[Epub ahead of print]
  28. Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. Neuromuscul Disord. 2007;1:16–22
  29. Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JLM, Phipps M, DeRiso M, et al. Broad spectrum of Pompe disease in patients with the same c.-32-13T-G haplotype. Neurology. 2007;68:110–115
  30. Park Y-E, Park K-H, Lee C-H, Kim C-M, Kim D-S. Two new missense mutations of GAA in late onset glycogen storage disease type II. J Neurol Sci. 2006;251:113–117
  31. Jack RM, Gordon C, Scott CR, Kishnani PS, Bali D. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006;8307–8312
  32. Gelb MH, Turecek F, Scott CR, Chamoles NA. 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. 2006;29:397–404
  33. Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, et al. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med. 2006;8:302–306
  34. Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by Xuorometric assay of α-glucosidase activities in dried blood spots. Mol Genet Metab. 2007;90:449–452
  35. Winchester B, Bali D, Bodamer OA, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93:275–281
  36. Ramsay SL, Meikle PJ, Hopwood JJ, Clements PR. Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides. Anal Biochem. 2005;345:30–46
  37. Umapathysivam K, Hopwood JJ, Meikle PJ. Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin Chim Acta. 2005;361:191–198
  38. Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, et al. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther. 2006;14:831–839
  39. Winkel LPF, Hout JMPVDH, Kamphoven JHJ, Disseldorp JAM, Remmerswaal M, Willem AFM, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004;55:495–502
  40. Metzl JD, Elias ER, Berul CI. An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999;22:821–822
  41. Ing RJ, Cook DR, Bengur RA, Williams EA, Eck J, Dear GL, et al. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Pediatr Anesth. 2004;14:514–519
  42. Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64:1465–1467
  43. Bodamer OAF, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997;156(Suppl 1):S39–S42
  44. Mundy HR, Williams JE, Cousins AJ, Lee PJ. The effect of L-alanine therapy in a patient with adult-onset glycogen storage disease type II. J Inherit Metab Dis. 2006;29:226–229
  45. Winkel LPF, Kamphoven JHJ, Hout HJMPD, Severijnen LA, Doorn PAV, Reuser AJJ, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve. 2003;27:743–751
  46. Beek VD, Hagemans MLC, Van der Ploeg AT, Doorn PAV. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106:82–86
  47. Thurberg BL, Maloney CL, Vaccaro C, Afonso K, Tsai ACH, Bossen EH, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease. Lab Invest. 2006;86:1208–1220
  48. Wagner KR. Enzyme replacement for infantile Pompe disease: the first step toward a cure. Neurology. 2007;68:88–89
  49. Matalon R, Surendran S, Campbell GA, Matalon KM, Tyring SK, Grady J, et al. Hyaluronidase increases the biodistribution of acid a-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy. Biochem Biophys Res Commun. 2006;359:783–787
  50. Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000;356:397–398
  51. Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, et al. Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266–274
  52. Amalfitano A, Bengur AR, Morse JM, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001;3:132–138
  53. Kishnani P, Spencer C, Byrne B, Nicolino M, et al. Long-term efficacy of enzyme replacement therapy (ERT) in children with Pompe disease. Genet Med. 2007;146:77–86
  54. Van den Hout JM, Kamphoven JH, Winkel LP, Arts WE, et al. Long-term intravenous treatment of pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448–e457
  55. Klinge L, Straub V, Neudorf U, Schaper J, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase OO clinical trial. Neuromuscul Disord. 2005;15:24–31
  56. Kishnani PS, Nicolino M, Voit T, Rogers RC, et al. Results from a phase II trial of Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;
  57. Castilla EE, Orioli IM. ECLAMC: the Latin-American Collaborative Study of Congenital Malformations. Community Genet. 2004;7:76–94
  58. Pascual-Pascual SI, Rubio P, Albajara L, Gutierrez M, Chabas A, Alvarado F. Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report. J Inherit Metab Dis. 2006;29:763
  59. Llerena J. Doenças genéticas: desafio para o SUS. In:  Emerick MC,  Karla BM editor. Novas Tecnologias na Genética Humana: Avanços e Impactos para a Saúde. Montenegro: Win Degrave; 2007;p. 81–86

 Please see the Author Disclosures section at the end of this article.

PII: S0022-3476(09)00676-3

doi: 10.1016/j.jpeds.2009.07.006

The Journal of Pediatrics
Volume 155, Issue 4, Supplement , Pages S47-S56 , October 2009