Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular Genetics and Metabolism

Volumn 93, Issue 3, 2008, Pages 275-281

  Winchester, B ^a   Bali, D ^b   Bodamer, O A ^c   Caillaud, C ^d   Christensen, E ^e   Cooper, A ^f   Cupler, E ^g   Deschauer, M ^h   Fumic K ⁱ   Jackson, M ^a   Kishnani, P ^b   Lacerda, L ^j   Ledvinova J ^k   Lugowska, A ^l   Lukacs, Z ^m   Maire, I ⁿ   Mandel, H ^o   Mengel, E ^p   Muller Felber W ^q   Piraud, M ⁿ   Reuser, A ^r   Rupar, T ^s   Sinigerska, I ^t   Szlago, M ^u   Verheijen, F ^r   van Diggelen, O P ^r   Wuyts, B ^v   Zakharova, E ^w   Keutzer, J ^x   more..

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c ST ANNA CHILDREN S HOSPITAL   (Austria)

^d Hôpital Cochin ^*  (France)

^e Rigshospitalet   (Denmark)

^f ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

ⁱ UNIVERSITY OF ZAGREB   (Croatia)

^j NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^k Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^l INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^m UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁿ HÔPITAL DEBROUSSE   (France)

^o RAMBAM MEDICAL CENTER   (Israel)

^p JOHANNES GUTENBERG UNIVERSITY   (Germany)

^q LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^r ERASMUS MEDICAL CENTER   (Netherlands)

^s UNIVERSITY OF WESTERN ONTARIO   (Canada)

^t University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^u FESEN   (Argentina)

^v GHENT UNIVERSITY HOSPITAL   (Belgium)

^w RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^x GENZYME CORPORATION   (United States)

more..

Author keywords

Acarbose; Acid maltase deficiency; Diagnosis; Enzyme assay; Glycogen storage disease type II; Lysosomal acid glucosidase; Pompe disease

Indexed keywords

4 METHYLUMBELLIFERYL ALPHA DEXTRO GLUCOSIDE; ACARBOSE; ALANINE AMINOTRANSFERASE; ALPHA GLUCOSIDASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSIDE; GLYCOGEN; LACTATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ACIDITY; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DRIED BLOOD SPOT; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME SUBSTRATE; GENETIC COUNSELING; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LABORATORY DIAGNOSIS; LYMPHOCYTE; MIXED LEUKOCYTE CULTURE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; QUALITY CONTROL; SKIN FIBROBLAST;

EID: 38949192583     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.09.006     Document Type: Note

References (35)

1. Hirschhorn R., and Reuser A.J. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver C.R., Be audet A.L., Sly W.S., Valle D., Vogelstein B., and Childs B. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. (2001), McGraw-Hill Publishing Co., New York 3389-3420
2. Ausems M.G., Verbiest J., Hermans M.M., Kroos M.A., Beemer F.A., Wokke J.H., Sandkuijl L.A., Reuser A.J., and van der Ploeg A.T. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur. J. Hum. Genet. 7 (1999) 713-716
3. Martiniuk F., Chen A., Mack A., Arvanitopoulos E., Chen Y., Rom W.N., Codd W.J., Hanna B., Alcabes P., Raben N., and Plotz P. 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
4. van den Hout H.M., Hop W., van Diggelen O.P., Smeitink J.A., Smit G.P., Poll-The B.T., Bakker H.D., Loonen M.C., de Klerk J.B., Reuser A.J., and van der Ploeg A.T. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112 (2003) 332-340
5. Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., Yong F., and Corzo D. Infantile-Onset Pompe Disease Natural History Study Group, a retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 148 (2006) 671-676
6. Koeberl D.D., Kishnani P.S., and Chen Y.T. Glycogen storage disease types I and II: treatment updates. J. Inherit. Metab. Dis. 30 (2007) 159-164
7. Kishnani P.S., and Howell R.R. Pompe disease in infants and children. J. Pediatr. 144 Suppl. 5 (2004) S35-S43
8. 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., and Wraith J.E. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68 (2007) 99-109
9. Van den Hout J.M., Kamphoven J.H., Winkel L.P., Arts W.F., De Klerk J.B., Loonen M.C., Vulto A.G., Cromme-Dijkhuis A., Weisglas-Kuperus N., Hop W., Van Hirtum H., Van Diggelen O.P., Boer M., Kroos M.A., Van Doorn P.A., Van der Voort E., Sibbles B., Van Corven E.J., Brakenhoff J.P., Van Hove J., Smeitink J.A., de Jong G., Reuser A.J., and Van der Ploeg A.T. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113 (2004) e448-e457
10. Howell R.R., Byrne B., Darras B.T., Kishnani P., Nicolino M., and van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet. Med. 8 (2006) 289-296
11. 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., and Watson M.S. Pompe disease diagnosis and management guideline. Genet. Med. 8 (2006) 267-288
12. Winkel L.P., Hagemans M.L., van Doorn P.A., Loonen M.C., Hop W.J., Reuser A.J., and van der Ploeg A.T. The natural course of non-classic Pompe's disease; a review of 225 published cases. J. Neurol. 252 (2005) 875-884
13. Meikle P.J., Ranieri E., Simonsen H., Rozaklis T., Ramsay S.L., Whitfield P.D., Fuller M., Christensen E., Skovby F., and Hopwood J.J. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114 (2004) 909-916
14. Reuser A.J., Kroos M.A., Hermans M.M., Bijvoet A.G., Verbeet M.P., Van Diggelen O.P., Kleijer W.J., and Van der Ploeg A.T. Glycogenosis type II (acid maltase deficiency). Muscle Nerve 3 (1995) S61-S69
15. Kallwass H., Carr C., Gerrein J., Titlow M., Pomponio R., Bali D., Dai J., Kishnani P., Skrinar A., Corzo D., and Keutzer J. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol. Genet. Metab. 90 (2007) 449-452
16. Wang L.Y., Ross A.K., Li J.S., Dearmey S.M., Mackey J.F., Worden M., Corzo D., Morgan C., and Kishnani P.S. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr. Anaesth. 17 (2007) 738-748
17. Heukels-Dully M.J., and Niermeijer M.F. Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells. Exp. Cell Res. 97 (1976) 304-312
18. Koster J.F., Slee R.G., and Hülsmann W.C. The use of leukocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin. Chim. Acta 51 (1974) 319-325
19. Umapathysivam K., Hopwood J.J., and Meikle P.J. Determination of alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin. Chem. 47 (2001) 1378-1383
20. Broadhead D.M., and Butterworth J. Pompe's disease: diagnosis in kidney and leucocytes using 4-methylumbelliferyl-alpha-d-glucopyranoside. Clin. Genet. 13 (1978) 504-510
21. Chamoles N.A., Niizawa G., Blanco M., Gaggioli D., and Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin. Chim. Acta 347 (2004) 97-102
22. Umapathysivam K., Whittle A.M., Ranieri E., Bindloss C., Ravenscroft E.M., van Diggelen O.P., Hopwood J.J., and Meikle P.J. 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
23. Li Y., Scott C.R., Chamoles N.A., Ghavami A., Pinto B.M., Turecek F., and Gelb M.H. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. 50 (2004) 1785-1796
24. Zhang H., Kallwass H., Young S.P., Carr C., Dai J., Kishnani P.S., Millington D.S., Keutzer J., Chen Y.T., and 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. Med. 8 (2006) 302-306
25. Okumiya T., Keulemans J.L., Kroos M.A., Van der Beek N.M., Boer M.A., Takeuchi H., Van Diggelen O.P., and Reuser A.J. A new diagnostic assay for glycogen storage disease type II in mixed leucocytes. Mol. Genet. Metab. 88 (2006) 22-28
26. Jack R.M., Gordon C., Scott C.R., Kishnani P.S., and 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. 8 (2006) 307-312
27. Ruijter G.J., Boer M., Weykamp C.W., de Vries R., van den Berg I., Janssens-Puister J., Niezen-Koning K., Wevers R.A., Poorthuis B.J., and van Diggelen O.P. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study. J. Inherit. Metab. Dis. 28 (2005) 979-990
28. Anderson G., Smith V.V., Malone M., and 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. 58 (2005) 1305-1310
29. An Y., Young S.P., Hillman S.L., Van Hove J.L., Chen Y.T., and Millington D.S. Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal. Biochem. 287 (2000) 136-143
30. Young S.P., Stevens R.D., An Y., Chen Y.T., and Millington D.S. Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. Anal. Biochem. 316 (2003) 175-180
31. Chester M.A., Lundblad A., Häger A., Sjöblad S., Loonen C., Tager J.M., and Zopf D. Increased urinary excretion of a glycogen-derived tetrasaccharide in heterozygotes with glycogen storage diseases type II and III. Lancet 1 (1983) 994-995
32. Young S.P., Corzo D., Kishnani P., Koeberl D.D., Bali D., Peterson D., Chen Y.T., and Millington D.S. Diagnostic value of urinary and plasma glucose tetrasaccharides in infantile and late onset glycogen storage disease type II. Mol. Genet. Metab. 84 (2005) 241-242
33. An Y., Young S.P., Kishnani P.S., Millington D.S., Amalfitano A., Corzo D., and Chen Y.T. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol. Genet. Metab. 85 (2005) 247-254
34. Ausems M.G., Lochman P., van Diggelen O.P., Ploos van Amstel H.K., Reuser A.J., and Wokke J.H. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 52 (1999) 851-853
35. Di Fiore M.T., Manfredi R., Marri L., Zucchini A., Azzaroli L., and Manfredi G. Elevation of transaminases as an early sign of late-onset glycogenosis type II. Eur. J. Pediatr. 152 (1993) 784