Pompe disease: Early diagnosis and early treatment make a difference

Pediatrics and Neonatology

Volumn 54, Issue 4, 2013, Pages 219-227

  Chien, Yin Hsiu ^a,b   Hwu, Wuh Liang ^a,b   Lee, Ni Chung ^a,b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

acid glucosidase enzyme replacement therapy glycogen storage disease type II newborn screening Pompe disease

Indexed keywords

AGALSIDASE BETA; IMIGLUCERASE; LARONIDASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; VELAGLUCERASE ALFA;

ARTIFICIAL VENTILATION; CHROMOSOME 17Q; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; ENZYME REPLACEMENT; EXON; FABRY DISEASE; FOOD AND DRUG ADMINISTRATION; GAUCHER DISEASE; GENE FREQUENCY; GENE THERAPY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HURLER SYNDROME; IMMUNE RESPONSE; INTRON; LABORATORY DIAGNOSIS; LONG TERM SURVIVAL; MOLECULAR WEIGHT; MUCOPOLYSACCHARIDOSIS; NEWBORN DISEASE; NEWBORN SCREENING; PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPE; PREDICTIVE VALUE; RESPIRATORY FAILURE; REVIEW;

ACID Α-GLUCOSIDASE; ENZYME REPLACEMENT THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; NEWBORN SCREENING; POMPE DISEASE;

AGE FACTORS; ALPHA-GLUCOSIDASES; CHILD, PRESCHOOL; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY, DOPPLER; ENZYME REPLACEMENT THERAPY; FEMALE; GENETIC THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PROGNOSIS; RISK ASSESSMENT; SURVIVAL RATE; TREATMENT OUTCOME;

EID: 84880823455     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2013.03.009     Document Type: Review

References (80)

1. R. Hirschhorn, and A. Reuser Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency C. Scriver, A. Beaudet, W. Sly, D. Valle, The metabolic and molecular bases of inherited disease 2001 McGraw-Hill New York 3389 3420
2. J.-C. Pompe Over idiopatische hypertrophie van het hart Ned Tijdshr Geneeskd 76 1932 304 (In Dutch)
3. C. De Duve The lysosome Sci Am 208 1963 64 72
4. J.M. Van den Hout, J.H. Kamphoven, L.P. Winkel, W.F. Arts, J.B. De Klerk, and M.C. Loonen Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk Pediatrics 113 2004 e448 e457
5. P.S. Kishnani, D. Corzo, M. Nicolino, B. Byrne, H. Mandel, and W.L. Hwu Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease Neurology 68 2007 99 109 (Pubitemid 46071892)
6. P.S. Kishnani, W.L. Hwu, H. Mandel, M. Nicolino, F. Yong, and D. Corzo A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease J Pediatr 148 2006 671 676
7. M.L. Hagemans, L.P. Winkel, P.A. Van Doorn, W.J. Hop, M.C. Loonen, and A.J. Reuser Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients Brain 128 2005 671 677 (Pubitemid 40380201)
8. M.A. Kroos, R.J. Pomponio, M.L. Hagemans, J.L. Keulemans, M. Phipps, and M. DeRiso Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype Neurology 68 2007 110 115 (Pubitemid 46071893)
9. C.C. Yang, Y.H. Chien, N.C. Lee, S.C. Chiang, S.P. Lin, and Y.T. Kuo Rapid progressive course of later-onset Pompe disease in Chinese patients Mol Genet Metab 104 2011 284 288
10. M.G. Ausems, J. Verbiest, M.P. Hermans, M.A. Kroos, F.A. Beemer, and J.H. Wokke Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling Eur J Hum Genet 7 1999 713 716 (Pubitemid 29424063)
11. C.Y. Lin, B. Hwang, K.J. Hsiao, and Y.R. Jin Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity J Inherit Metab Dis 10 1987 11 17 (Pubitemid 17021351)
12. N. Bashan, R. Potashnik, V. Barash, A. Gutman, and S.W. Moses Glycogen storage disease type II in Israel Isr J Med Sci 24 1988 224 227
13. F. Martiniuk, A. Chen, A. Mack, E. Arvanitopoulos, Y. Chen, and W.N. Rom Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease Am J Med Genet 79 1998 69 72 (Pubitemid 28402423)
14. M.G. Ausems, K. ten Berg, M.A. Kroos, O.P. van Diggelen, R.A. Wevers, and B.J. Poorthuis Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency Community Genet 2 1999 91 96 (Pubitemid 30163227)
15. Y.H. Chien, S.C. Chiang, X.K. Zhang, J. Keutzer, N.C. Lee, and A.C. Huang Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program Pediatrics 122 2008 e39 e45
16. Y.H. Chien, N.C. Lee, H.J. Huang, B.L. Thurberg, F.J. Tsai, and W.L. Hwu Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening J Pediatr 158 2011 1023 1027.e1
17. S.C. Chiang, W.L. Hwu, N.C. Lee, L.W. Hsu, and Y.H. Chien Algorithm for Pompe disease newborn screening: results from the taiwan screening program Mol Genet Metab 106 2012 281 286
18. T.P. Mechtler, S. Stary, T.F. Metz, V.R. De Jesús, S. Greber-Platzer, and A. Pollak Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria Lancet 379 2012 335 341
19. H.A. Wisselaar, M.A. Kroos, M.M. Hermans, J. van Beeumen, and A.J. Reuser Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation J Biol Chem 268 1993 2223 2231 (Pubitemid 23033637)
20. M. Kroos, M. Hoogeveen-Westerveld, H. Michelakakis, R. Pomponio, A. Van der Ploeg, and D. Halley Update of the Pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants Hum Mutat 33 2012 1161 1165
21. C.F. Boerkoel, R. Exelbert, C. Nicastri, R.C. Nichols, F.W. Miller, and P.H. Plotz Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II Am J Hum Genet 56 1995 887 897
22. T.M. Ko, W.L. Hwu, Y.W. Lin, L.H. Tseng, H.L. Hwa, and T.R. Wang Molecular genetic study of Pompe disease in Chinese patients in Taiwan Hum Mutat 13 1999 380 384
23. M. Kroos, M. Hoogeveen-Westerveld, A. van der Ploeg, and A.J. Reuser The genotype-phenotype correlation in Pompe disease Am J Med Genet C Semin Med Genet 160 2012 59 68
24. J.J. Shieh, and C.Y. Lin Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect Hum Mutat 11 1998 306 312
25. S. Shigeto, T. Katafuchi, Y. Okada, K. Nakamura, F. Endo, and T. Okuyama Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots Mol Genet Metab 103 2011 12 17
26. Y. Tajima, F. Matsuzawa, S. Aikawa, T. Okumiya, M. Yoshimizu, and T. Tsukimura Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase" J Hum Genet 52 2007 898 906 (Pubitemid 350112483)
27. M.L. Huie, M. Menaker, P.J. McAlpine, and R. Hirschhorn Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4) Ann Hum Genet 60 1996 365 368 (Pubitemid 26383907)
28. M.A. Kroos, R.A. Mullaart, L. Van Vliet, R.J. Pomponio, H. Amartino, and E.H. Kolodny p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet 16 2008 875 879
29. P. Yue, Z. Li, and J. Moult Loss of protein structure stability as a major causative factor in monogenic disease J Mol Biol 353 2005 459 473 (Pubitemid 41356624)
30. P. Yue, and J. Moult Identification and analysis of deleterious human SNPs J Mol Biol 356 2006 1263 1274 (Pubitemid 43199928)
31. M.M. Hermans, H.A. Wisselaar, M.A. Kroos, B.A. Oostra, and A.J. Reuser Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites Biochem J 289 1993 681 686 (Pubitemid 23074949)
32. P. Labrousse, Y.H. Chien, R.J. Pomponio, J. Keutzer, N.C. Lee, and V.R. Akmaev Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program Mol Genet Metab 99 2010 379 383
33. N. Taniguchi, E. Kato, H. Yoshida, S. Iwaki, T. Ohki, and S. Koizumi Alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state Clin Chim Acta 89 1978 293 299 (Pubitemid 9030343)
34. Y.S. Shin, W. Endres, J. Unterreithmeier, M. Rieth, and J. Schaub Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells Clin Chim Acta 148 1985 9 19 (Pubitemid 15036678)
35. K. Umapathysivam, J.J. Hopwood, and P.J. Meikle Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease Clin Chim Acta 361 2005 191 198 (Pubitemid 41382623)
36. K. Umapathysivam, A.M. Whittle, E. Ranieri, C. Bindloss, E.M. Ravenscroft, and O.P. van Diggelen Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders Clin Chem 46 2000 1318 1325
37. N.A. Chamoles, G. Niizawa, M. Blanco, D. Gaggioli, and C. Casentini Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper Clin Chim Acta 347 2004 97 102 (Pubitemid 39099610)
38. Y. Li, C.R. Scott, N.A. Chamoles, A. Ghavami, B.M. Pinto, and F. Turecek Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening Clin Chem 50 2004 1785 1796 (Pubitemid 39298007)
39. T. Okumiya, J.L. Keulemans, M.A. Kroos, N.M. Van der Beek, M.A. Boer, and H. Takeuchi A new diagnostic assay for glycogen storage disease type II in mixed leukocytes Mol Genet Metab 88 2006 22 28
40. A.G. Bijvoet, M.A. Kroos, F.R. Pieper, H.A. de Boer, A.J. Reuser, and A.T. van der Ploeg Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice Biochim Biophys Acta 1308 1996 93 96 (Pubitemid 26252768)
41. J.L. Van Hove, H.W. Yang, J.Y. Wu, R.O. Brady, and Y.T. Chen High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease Proc Natl Acad Sci U S A 93 1996 65 70
42. A.T. van der Ploeg, P.R. Clemens, D. Corzo, D.M. Escolar, J. Florence, and G.J. Groeneveld A randomized study of alglucosidase alfa in late-onset Pompe's disease N Engl J Med 362 2010 1396 1406
43. M. Nicolino, B. Byrne, J.E. Wraith, N. Leslie, H. Mandel, and D.R. Freyer Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease Genet Med 11 2009 210 219
44. T. Kikuchi, H.W. Yang, M. Pennybacker, N. Ichihara, M. Mizutani, and J.L. Van Hove Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail J Clin Invest 101 1998 827 833 (Pubitemid 28096080)
45. S.N. Prater, S.G. Banugaria, S.M. DeArmey, E.G. Botha, E.M. Stege, and L.E. Case The emerging phenotype of long-term survivors with infantile Pompe disease Genet Med 14 2012 800 810
46. T.E. Hunley, D. Corzo, M. Dudek, P. Kishnani, A. Amalfitano, and Y.T. Chen Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease Pediatrics 114 2004 e532 e535
47. S.G. Banugaria, S.N. Prater, Y.K. Ng, J.A. Kobori, R.S. Finkel, and R.L. Ladda The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease Genet Med 13 2011 729 736
48. J.J. Orsini, M.M. Martin, A.L. Showers, O.A. Bodamer, X.K. Zhang, and M.H. Gelb Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders Clin Chim Acta 413 2012 1270 1273
49. E. Parkinson-Lawrence, M. Fuller, J.J. Hopwood, P.J. Meikle, and D.A. Brooks Immunochemistry of lysosomal storage disorders Clin Chem 52 2006 1660 1668 (Pubitemid 44330698)
50. D.S. Millington, R. Sista, A. Eckhardt, J. Rouse, D. Bali, and R. Goldberg Digital microfluidics: a future technology in the newborn screening laboratory? Semin Perinatol 34 2010 163 169
51. P.S. Kishnani, D. Corzo, N.D. Leslie, D. Gruskin, A. Van der Ploeg, and J.P. Clancy Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease Pediatr Res 66 2009 329 335
52. Y.H. Chien, N.C. Lee, B.L. Thurberg, S.C. Chiang, X.K. Zhang, and J. Keutzer Pompe disease in infants: improving the prognosis by newborn screening and early treatment Pediatrics 124 2009 e1116 e1125
53. L.R. Chen, C.A. Chen, S.N. Chiu, Y.H. Chien, N.C. Lee, and M.T. Lin Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease J Pediatr 155 2009 271-5.e2
54. C.A. Chen, Y.H. Chien, W.L. Hwu, N.C. Lee, J.K. Wang, and L.R. Chen Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy J Card Fail 17 2011 930 936
55. P.S. Kishnani, and R.R. Howell Pompe disease in infants and children J Pediatr 144 2004 S35 S43
56. L.E. Case, A.A. Beckemeyer, and P.S. Kishnani Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations Am J Med Genet C Semin Med Genet 160 2012 69 79
57. L.R. DeRuisseau, D.D. Fuller, K. Qiu, K.C. DeRuisseau, W.H. Donnelly Jr., and C. Mah Neural deficits contribute to respiratory insufficiency in Pompe disease Proc Natl Acad Sci U S A 106 2009 9419 9424
58. P. Gambetti, S. DiMauro, and L. Baker Nervous system in Pompe's disease. Ultrastructure and biochemistry J Neuropathol Exp Neurol 30 1971 412 430
59. Y.T. Teng, W.J. Su, J.W. Hou, and S.F. Huang Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings Chang Gung Med J 27 2004 379 384
60. N. Raben, M. Danon, A.L. Gilbert, S. Dwivedi, B. Collins, and B.L. Thurberg Enzyme replacement therapy in the mouse model of Pompe disease Mol Genet Metab 80 2003 159 169 (Pubitemid 37272242)
61. B.J. Ebbink, F.K. Aarsen, C.M. van Gelder, J.M. van den Hout, N. Weisglas-Kuperus, and J. Jaeken Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy Neurology 78 2012 1512 1518
62. H.N. Jones, C.W. Muller, M. Lin, S.G. Banugaria, L.E. Case, and J.S. Li Oropharyngeal dysphagia in infants and children with infantile Pompe disease Dysphagia 25 2010 277 283
63. C.M. van Gelder, C.I. van Capelle, B.J. Ebbink, I. Moor-van Nugteren, J.M. van den Hout, and M.M. Hakkesteegt Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy J Inherit Metab Dis 35 2012 505 511
64. Y.H. Chien, N.C. Lee, S.F. Peng, and W.L. Hwu Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy Pediatr Res 60 2006 349 352
65. N. Raben, E. Ralston, Y.H. Chien, R. Baum, C. Schreiner, and W.L. Hwu Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy Mol Genet Metab 101 2010 324 331
66. B.L. Thurberg, C. Lynch Maloney, C. Vaccaro, K. Afonso, A.C. Tsai, and E. Bossen Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease Lab Invest 86 2006 1208 1220 (Pubitemid 44789911)
67. S.G. Banugaria, T.T. Patel, J. Mackey, S. Das, A. Amalfitano, and A.S. Rosenberg Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells Mol Genet Metab 105 2012 677 680
68. Y.H. Messinger, N.J. Mendelsohn, W. Rhead, D. Dimmock, E. Hershkovitz, and M. Champion Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease Genet Med 14 2012 135 142
69. D.S. Bali, J.L. Goldstein, S. Banugaria, J. Dai, J. Mackey, and C. Rehder Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience Am J Med Genet C Semin Med Genet 160 2012 40 49
70. M.M. Hermans, E. de Graaff, M.A. Kroos, H.A. Wisselaar, R. Willemsen, and B.A. Oostra The conservative substitution Asp-645->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II Biochem J 289 1993 687 693 (Pubitemid 23074950)
71. Y. Zhu, J.L. Jiang, N.K. Gumlaw, J. Zhang, S.D. Bercury, and R.J. Ziegler Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease Mol Ther 17 2009 954 963
72. J.H. LeBowitz, J.H. Grubb, J.A. Maga, D.H. Schmiel, C. Vogler, and W.S. Sly Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice Proc Natl Acad Sci U S A 101 2004 3083 3088 (Pubitemid 38327738)
73. J.A. Maga, J. Zhou, R. Kambampati, S. Peng, X. Wang, and R.N. Bohnsack Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in pompe mice J Biol Chem 288 2013 1428 1438
74. G. Parenti Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics EMBO Mol Med 1 2009 268 279
75. R. Khanna, J.J. Flanagan, J. Feng, R. Soska, M. Frascella, and L.J. Pellegrino The pharmacological chaperone AT2220 increases recombinant human acid alpha-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease PLoS One 7 2012 e40776
76. C. Porto, M.C. Ferrara, M. Meli, E. Acampora, V. Avolio, and M. Rosa Pharmacological enhancement of alpha-glucosidase by the allosteric chaperone N-acetylcysteine Mol Ther 20 2012 2201 2211
77. A. Amalfitano, A.J. McVie-Wylie, H. Hu, T.L. Dawson, N. Raben, and P. Plotz Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase Proc Natl Acad Sci U S A 96 1999 8861 8866 (Pubitemid 29374673)
78. B. Sun, S.P. Young, P. Li, C. Di, T. Brown, and M.Z. Salva Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy Mol Ther 16 2008 1366 1371
79. N.P. van Til, M. Stok, F.S. Aerts Kaya, M.C. de Waard, E. Farahbakhshian, and T.P. Visser Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype Blood 115 2010 5329 5337
80. C.S. Mah, D.J. Falk, S.A. Germain, J.S. Kelley, M.A. Lewis, and D.A. Cloutier Gel-mediated delivery of AAV1 vectors corrects ventilatory function in pompe mice with established disease Mol Ther 18 2010 502 510