Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 84-91

  Kishnani, Priya S ^a   Amartino, Hernán M ^b   Lindberg, Christopher ^c   Miller, Timothy M ^d   Wilson, Amanda ^d   Keutzer, Joan ^d  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSIDAD AUSTRAL   (Argentina)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d GENZYME CORPORATION   (United States)

Author keywords

Diagnosis; Dried blood spots; GAA enzyme assays; Lysosomal storage disorder; Pompe disease; Registry

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE REGISTRY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GEOGRAPHIC DISTRIBUTION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; LEUKOCYTE; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; ADOLESCENT; BIOPSY; CHILD; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE II; INFANT; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES; REGISTER; SKELETAL MUSCLE;

ADOLESCENT; BIOPSY; CHILD; CHILD, PRESCHOOL; ENZYME ASSAYS; FEMALE; GENETIC TESTING; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; REGISTRIES;

EID: 84908540599     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.014     Document Type: Article

References (63)

1. Hirschhorn R., Reuser A.J.J. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. The Metabolic & Molecular Bases of Inherited Disease 2001, McGraw-Hill, New York. 8th edition. C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.).
2. Kishnani P.S., Steiner R.D., Bali D., Berger K., Byrne B.J., Case L.E., Crowley J.F., Downs S., Howell R.R., Kravitz R.M., Mackey J., Marsden D., Martins A.M., Millington D.S., Nicolino M., O'Grady G., Patterson M.C., Rapoport D.M., Slonim A., Spencer C.T., Tifft C.J., Watson M.S. Pompe disease diagnosis and management guideline. Genet. Med. 2006, 8:267-288.
3. Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., Yong F., Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 2006, 148:671-676.
4. van den Hout H.M., Hop W., van Diggelen O.P., Smeitink J.A., Smit G.P., B.T.Poll-The, Bakker H.D., Loonen M.C., de Klerk J.B., Reuser A.J., van der Ploeg A.T. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003, 112:332-340.
5. Kishnani P.S., Howell R.R. Pompe disease in infants and children. J. Pediatr. 2004, 144:S35-S43.
6. Hagemans M.L., Winkel L.P., Hop W.C., Reuser A.J., Van Doorn P.A., Van der Ploeg A.T. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005, 64:2139-2141.
7. Winkel L.P., Hagemans M.L., van Doorn P.A., Loonen M.C., Hop W.J., Reuser A.J., van der Ploeg A.T. The natural course of non-classic Pompe's disease; a review of 225 published cases. J. Neurol. 2005, 252:875-884.
8. Laforet P., Petiot P., Nicolino M., Orlikowski D., Caillaud C., Pellegrini N., Froissart R., Petitjean T., Maire I., Chabriat H., Hadrane L., Annane D., Eymard B. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 2008, 70:2063-2066.
9. Muller-Felber W., Horvath R., Gempel K., Podskarbi T., Shin Y., Pongratz D., Walter M.C., Baethmann M., Schlotter-Weigel B., Lochmuller H., Schoser B. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul. Disord. 2007, 17:698-706.
10. van der Ploeg A.T., Reuser A.J. Pompe's disease. Lancet 2008, 372:1342-1353.
11. Soliman O.I., van der Beek N.A., van Doorn P.A., Vletter W.B., Nemes A., Van Dalen B.M., ten Cate F.J., van der Ploeg A.T., Geleijnse M.L. Cardiac involvement in adults with Pompe disease. J. Intern. Med. 2008, 264:333-339.
12. El-Gharbawy A.H., Bhat G., Murillo J.E., Thurberg B.L., Kampmann C., Mengel K.E., Kishnani P.S. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol. Genet. Metab. 2011, 103:362-366.
13. van der Beek N.A., Soliman O.I., van Capelle C.I., Geleijnse M.L., Vletter W.B., Kroos M.A., Reuser A.J., Frohn-Mulder I.M., van Doorn P.A., van der Ploeg A.T. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. J. Neurol. Sci. 2008, 275:46-50.
14. Schuller A., Wenninger S., Strigl-Pill N., Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am. J. Med. Genet. C: Semin. Med. Genet. 2012, 160:80-88.
15. Sacconi S., Bocquet J.D., Chanalet S., Tanant V., Salviati L., Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J. Neurol. 2010, 257:1730-1733.
16. Dubrovsky A., Corderi J., Lin M., Kishnani P.S., Jones H.N. Expanding the phenotype of late-onset pompe disease: tongue weakness: A new clinical observation. Muscle Nerve 2011, 44:897-901.
17. Roberts M., Kishnani P.S., van der Ploeg A.T., Muller-Felber W., Merlini L., Prasad S., Case L.E. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol. Genet. Metab. 2011, 104:574-582.
18. Slingerland N.W., Polling J.R., van Gelder C.M., van der Ploeg A.T., Bleyen I. Ptosis, extraocular motility disorder, and myopia as features of Pompe disease. Orbit 2011, 30:111-113.
19. Yanovitch T.L., Banugaria S.G., Proia A.D., Kishnani P.S. Clinical and histologic ocular findings in Pompe disease. J. Pediatr. Ophthalmol. Strabismus 2010, 47:34-40.
20. Hobson-Webb L.D., Jones H.N., Kishnani P.S. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul. Disord. 2013, 23:319-323.
21. Wang L.Y., Ross A.K., Li J.S., Dearmey S.M., Mackey J.F., Worden M., Corzo D., Morgan C., Kishnani P.S. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr. Anaesth. 2007, 17:738-748.
22. Chien Y.H., Chiang S.C., Zhang X.K., Keutzer J., Lee N.C., Huang A.C., Chen C.A., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008, 122:e39-e45.
23. Chien Y.H., Lee N.C., Huang H.J., Thurberg B.L., Tsai F.J., Hwu W.L. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J. Pediatr. 2001, 158:1023-1027.
24. Kishnani P.S., Corzo D., Nicolino M., Byrne B., Mandel H., Hwu W.L., Leslie N., Levine J., Spencer C., McDonald M., Li J., Dumontier J., Halberthal M., Chien Y.H., Hopkin R., Vijayaraghavan S., Gruskin D., Bartholomew D., van der Ploeg A., Clancy J.P., Parini R., Morin G., Beck M., De la Gastine G.S., Jokic M., Thurberg B., Richards S., Bali D., Davison M., Worden M.A., Chen Y.T., Wraith J.E. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68:99-109.
25. Kishnani P.S., Nicolino M., Voit T., Rogers R.C., Tsai A.C., Waterson J., Herman G.E., Amalfitano A., Thurberg B.L., Richards S., Davison M., Corzo D., Chen Y.T. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J. Pediatr. 2006, 149:89-97.
26. Van den Hout H., Reuser A.J., Vulto A.G., Loonen M.C., Cromme-Dijkhuis A., Van der Ploeg A.T. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000, 356:397-398.
27. Winkel L.P., Kamphoven J.H., van den Hout H.J., Severijnen L.A., van Doorn P.A., Reuser A.J., van der Ploeg A.T. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003, 27:743-751.
28. Chien Y.H., Lee N.C., Thurberg B.L., Chiang S.C., Zhang X.K., Keutzer J., Huang A.C., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009, 124:e1116-e1125.
29. Angelini C., Semplicini C., Ravaglia S., Bembi B., Servidei S., Pegoraro E., Moggio M., Filosto M., Sette E., Crescimanno G., Tonin P., Parini R., Morandi L., Marrosu G., Greco G., Musumeci O., Di Iorio G., Siciliano G., Donati M.A., Carubbi F., Ermani M., Mongini T., Toscano A. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4years. J. Neurol. 2012, 259:952-958.
30. van der Ploeg A.T., Clemens P.R., Corzo D., Escolar D.M., Florence J., Groeneveld G.J., Herson S., Kishnani P.S., Laforet P., Lake S.L., Lange D.J., Leshner R.T., Mayhew J.E., Morgan C., Nozaki K., Park D.J., Pestronk A., Rosenbloom B., Skrinar A., van Capelle C.I., van der Beek N.A., Wasserstein M., Zivkovic S.A. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N. Engl. J. Med. 2010, 362:1396-1406.
31. Vielhaber S., Brejova A., Debska-Vielhaber G., Kaufmann J., Feistner H., Schoenfeld M.A., Awiszus F. 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin. Neurol. Neurosurg. 2011, 113:350-357.
32. American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009, 40:149-160.
33. Reuser A.J.J., Verheijen F.W., Kroos M.A., Okumiya T., Van Diggelen O.P., van der Ploeg A., Halley D.J.J. Enzymatic and molecular strategies to diagnose Pompe disease. Expert Opin. Med. Diagn. 2010, 4:79-89.
34. Goldstein J.L., Young S.P., Changela M., Dickerson G.H., Zhang H., Dai J., Peterson D., Millington D.S., Kishnani P.S., Bali D.S. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009, 40:32-36.
35. Joshi P.R., Glaser D., Schmidt S., Vorgerd M., Winterholler M., Eger K., Zierz S., Deschauer M. Molecular diagnosis of German patients with late-onset glycogen storage disease type II. J. Inherit. Metab. Dis. 2008, 31:261-265.
36. Kallwass H., Carr C., Gerrein J., Titlow M., Pomponio R., Bali D., Dai J., Kishnani P., Skrinar A., Corzo D., Keutzer J. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol. Genet. Metab. 2007, 90:449-452.
37. Ausems M.G., Lochman P., van Diggelen O.P., Ploos van Amstel H.K., Reuser A.J., Wokke J.H. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999, 52:851-853.
38. Jack R.M., Gordon C., Scott C.R., Kishnani P.S., 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, 8:307-312.
39. Vissing J., Lukacs Z., Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol. 2013, 70:923-927.
40. Howell R.R., Byrne B., Darras B.T., Kishnani P., Nicolino M., van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet. Med. 2006, 8:289-296.
41. Straub V. Differential diagnosis and potential misdiagnosis of Pompe disease. Clin. Ther. 2008, 30:S6-S7.
42. Desnuelle C., Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Curr. Opin. Neurol. 2011, 24:443-448.
43. Reuser A.J., Verheijen F.W., Bali D., van Diggelen O.P., Germain D.P., Hwu W.L., Lukacs Z., Muhl A., Olivova P., Piraud M., Wuyts B., Zhang K., Keutzer J. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders-current status and perspectives. Mol. Genet. Metab. 2011, 104:144-148.
44. Kishnani P.S., Amartino H.M., Lindberg C., Miller T.M., Wilson A., Keutzer J. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am. J. Med. Genet. 2013, 161:2431-2443.
45. Chamoles N.A., 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.
46. Winchester B., Bali D., Bodamer O.A., Caillaud C., Christensen E., Cooper A., Cupler E., Deschauer M., Fumic K., Jackson M., Kishnani P., Lacerda L., Ledvinova J., Lugowska A., Lukacs Z., Maire I., Mandel H., Mengel E., Muller-Felber W., Piraud M., Reuser A., Rupar T., Sinigerska I., Szlago M., Verheijen F., van Diggelen O.P., Wuyts B., Zakharova E., Keutzer J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol. Genet. Metab. 2008, 93:275-281.
47. Keutzer J. Development of a Pompe disease CRIM assay for blood samples. Mol. Genet. Metab. 2011, 102:S23.
48. Zhang H., Kallwass H., Young S.P., Carr C., Dai J., Kishnani P.S., Millington D.S., Keutzer J., Chen Y.T., Bali D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet. Metab. 2006, 8:302-306.
49. Kumamoto S., Katafuchi T., Nakamura K., Endo F., Oda E., Okuyama T., Kroos M.A., Reuser A.J., Okumiya T. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol. Genet. Metab. 2009, 97:190-195.
50. Chiang S.C., Hwu W.L., Lee N.C., Hsu L.W., Chien Y.H. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Mol. Genet. Metab. 2012, 106:281-286.
51. Labrousse P., Chien Y.H., Pomponio R.J., Keutzer J., Lee N.C., Akmaev V.R., Scholl T., Hwu W.L. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol. Genet. Metab. 2010, 99:379-383.
52. Li Y., Scott C.R., Chamoles N.A., Ghavami A., Pinto B.M., Turecek F., Gelb M.H. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. 2004, 50:1785-1796.
53. Umpleby A.M., Wiles C.M., Trend P.S., Scobie I.N., Macleod A.F., Spencer G.T., Sonksen P.H. Protein turnover in acid maltase deficiency before and after treatment with a high protein diet. J. Neurol. Neurosurg. Psychiatry 1987, 50:587-592.
54. Wang R.Y., Bodamer O.A., Watson M.S., Wilcox W.R. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet. Med. 2011, 13:457-484.
55. Okumiya T., Keulemans J.L., Kroos M.A., Van der Beek N.M., Boer M.A., Takeuchi H., Van Diggelen O.P., Reuser A.J. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol. Genet. Metab. 2006, 88:22-28.
56. Manzur A.Y., Muntoni F. Diagnosis and new treatments in muscular dystrophies. Postgrad. Med. J. 2009, 85:622-630.
57. Pichiecchio A., Uggetti C., Ravaglia S., Egitto M.G., Rossi M., Sandrini G., Danesino C. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul. Disord. 2004, 14:51-55.
58. Teener J.W. Late-onset Pompe's disease. Semin. Neurol. 2012, 32:506-511.
59. Hagemans M.L., Stigter R.L., van Capelle C.I., van der Beek N.A., Winkel L.P., van Vliet L., Hop W.C., Reuser A.J., Beishuizen A., van der Ploeg A.T. PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J. Inherit. Metab. Dis. 2010, 33:133-139.
60. Tsuburaya R.S., Monma K., Oya Y., Nakayama T., Fukuda T., Sugie H., Hayashi Y.K., Nonaka I., Nishino I. Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology. Neuromuscul. Disord. 2012, 22:389-393.
61. Anderson G., Smith V.V., Malone M., Sebire N.J. Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre. J. Clin. Pathol. 2005, 58:1305-1310.
62. Shigeto S., Katafuchi T., Okada Y., Nakamura K., Endo F., Okuyama T., Takeuchi H., Kroos M.A., Verheijen F.W., Reuser A.J., Okumiya T. Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots. Mol. Genet. Metab. 2011, 103:12-17.
63. Byrne B.J., Kishnani P.S., Case L.E., Merlini L., Muller-Felber W., Prasad S., van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol. Genet. Metab. 2011, 103:1-11.