Pompe Disease Screening in a Sample of Iranian Patients
Abstract
The reason why the experiments were done: previous studies have shown that the incidence rates vary in different populations. Now we report the preliminary results of the screening study. Pompe disease is a rare but potentially treatable disorder caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA). GAA activity was measured on DBS in 65 patients with undiagnosed myopathies presenting to the hospital of the research setting in Isfahan, Iran, from 2016 to 2017 and then was confirmed by genetic analysis. Of the total of 65 patients, 29 (44.6%) were male, and 36 (55.4%) were female. The mean age of the patients was 29±12.55 years, and their mean age at the disease onset was 17±12.75. Two patients (one male and one female) were diagnosed with a low acid alpha-glucosidase activity. Only one patient (female) showed a compound heterozygotic mutation of the GAA gene (c.-32-13T>G). Early diagnosis of Pompe disease is important for improving the outcome.
1. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet 2008;372:1342-53.
2. Engel AG, Seybold M, Lambert E, Gomez M. Acid maltase deficiency: comparison of infantile, childhood, and adult types. Neurology 1970;20:382.
3. van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 2012;7:88.
4. Hagemans M, Winkel L, Van Doorn P, Hop W, Loonen M, Reuser A, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-7.
5. Echaniz Laguna A, Carlier RY, Laloui K, Carlier P, Salort‐Campana E, Pouget J, et al. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle Nerve 2015;51:884-9.
6. Stenzel W, Schoser B. Inherited and acquired muscle weakness: a moving target for diagnostic muscle biopsy. Neuropediatrics 2017;48:226-32.
7. Laforet P, Nicolino M, Eymard B, Puech J, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype–phenotype correlation. Neurology 2000;55:1122-8.
8. Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, et al. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile-and adult-onset patients. Acta Neuropathol Commun 2014;2:2.
9. Genge A, Campbell N. Reevaluating muscle biopsies in the diagnosis of Pompe disease: a Corroborative report. Can J Neurol Sci 2016;43:561-6.
10. Golsari A, Nasimzadah A, Thomalla G, Keller S, Gerloff C, Magnus T. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. Neuromuscul Disord 2018;28:257-61.
11. Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. 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.
12. Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol 2013;32:78-81.
13. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 2013;54:219-27.
14. Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Garaghani KS, Poloni GU, et al. Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis 2010;33:737-45.
15. Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots. Mol Genet Metab 2007;90:449-52.
16. La Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem 2009;81:6113-21.
17. Spada M, Porta F, Vercelli L, Pagliardini V, Chiadò-Piat L, Boffi P, et al. Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013;109:171-3.
18. Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis 2010;33:43-50.
19. Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, Hirschhorn R, et al. The metabolic and molecular bases of inherited disease. In: Glycogen storage disease type II. Acid alpha-glucosidase (acid maltase) deficiency. USA: McGraw-Hill, 2001:3389-420.
20. Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011;103:1-11.
21. Ausems M, Verbiest J, Hermans M, Kroos M, Beemer F, Wokke J, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-6.
22. Chien Y-H, Lee N-C, Huang H-J, Thurberg BL, Tsai F-J, Hwu W-L. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr 2011;158:1023-7. e1.
23. Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, et al. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry 2016;87:5-11.
24. Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87:295-8.
25. Tehrani KHN, Sakhaeyan E, Sakhaeyan E. Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology. Electron Physician 2017;9:4886-9.
26. Amartino H, Painceira D, Pomponio R, 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;69:187-8.
27. Neuromuscular AAo, Medicine E. Diagnostic criteria for late‐onset (childhood and adult) Pompe disease. Muscle Nerve 2009;40:149-60.
28. Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol 2013;70:923-7.
29. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267-88.
30. Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009;40:32-6.
31. Van Capelle CI. Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy [dissertation]. Erasmus University Rotterdam., 2014.
2. Engel AG, Seybold M, Lambert E, Gomez M. Acid maltase deficiency: comparison of infantile, childhood, and adult types. Neurology 1970;20:382.
3. van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 2012;7:88.
4. Hagemans M, Winkel L, Van Doorn P, Hop W, Loonen M, Reuser A, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-7.
5. Echaniz Laguna A, Carlier RY, Laloui K, Carlier P, Salort‐Campana E, Pouget J, et al. Should patients with asymptomatic pompe disease be treated? A nationwide study in France. Muscle Nerve 2015;51:884-9.
6. Stenzel W, Schoser B. Inherited and acquired muscle weakness: a moving target for diagnostic muscle biopsy. Neuropediatrics 2017;48:226-32.
7. Laforet P, Nicolino M, Eymard B, Puech J, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype–phenotype correlation. Neurology 2000;55:1122-8.
8. Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, et al. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile-and adult-onset patients. Acta Neuropathol Commun 2014;2:2.
9. Genge A, Campbell N. Reevaluating muscle biopsies in the diagnosis of Pompe disease: a Corroborative report. Can J Neurol Sci 2016;43:561-6.
10. Golsari A, Nasimzadah A, Thomalla G, Keller S, Gerloff C, Magnus T. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. Neuromuscul Disord 2018;28:257-61.
11. Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. 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.
12. Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol 2013;32:78-81.
13. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 2013;54:219-27.
14. Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Garaghani KS, Poloni GU, et al. Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis 2010;33:737-45.
15. Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots. Mol Genet Metab 2007;90:449-52.
16. La Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem 2009;81:6113-21.
17. Spada M, Porta F, Vercelli L, Pagliardini V, Chiadò-Piat L, Boffi P, et al. Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013;109:171-3.
18. Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis 2010;33:43-50.
19. Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, Hirschhorn R, et al. The metabolic and molecular bases of inherited disease. In: Glycogen storage disease type II. Acid alpha-glucosidase (acid maltase) deficiency. USA: McGraw-Hill, 2001:3389-420.
20. Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011;103:1-11.
21. Ausems M, Verbiest J, Hermans M, Kroos M, Beemer F, Wokke J, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-6.
22. Chien Y-H, Lee N-C, Huang H-J, Thurberg BL, Tsai F-J, Hwu W-L. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr 2011;158:1023-7. e1.
23. Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, et al. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry 2016;87:5-11.
24. Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87:295-8.
25. Tehrani KHN, Sakhaeyan E, Sakhaeyan E. Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology. Electron Physician 2017;9:4886-9.
26. Amartino H, Painceira D, Pomponio R, 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;69:187-8.
27. Neuromuscular AAo, Medicine E. Diagnostic criteria for late‐onset (childhood and adult) Pompe disease. Muscle Nerve 2009;40:149-60.
28. Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol 2013;70:923-7.
29. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267-88.
30. Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009;40:32-6.
31. Van Capelle CI. Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy [dissertation]. Erasmus University Rotterdam., 2014.
| Files | ||
| Issue | Vol 59, No 1 (2021) | |
| Section | Articles | |
| DOI | https://doi.org/10.18502/acta.v59i1.5403 | |
| Keywords | ||
| Pompe disease Lysosomal enzyme Proximal myopathy HyperCKemia | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Basiri K, Ansari B. Pompe Disease Screening in a Sample of Iranian Patients. Acta Med Iran. 2021;59(1):50-53.
