Abstract
Introduction: Pompe’s disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset.
Contents: In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described.
Conclusions: It is necessary to recognize Pompe disease because this pathology is treatable.
References
van der Ploeg AT, Reuser AJJ. Pompe’s disease. Lancet. 2008;372(9646):1342-53. https://dx.doi.org/10.1016/S0140-6736(08)61555-X
Melvin JJ. Pompe’s disease. Arch Neurol. 2000;57(1):134-5. https://dx.doi.org/10.1001/archneur.57.1.134
Pompe J.C. Hypertrophie idiopathique du coeur. Ann d’anatomie Pathol. 1933;10:23-35.
Kohler L, Puertollano R, Raben N. Pompe disease: From basic science to therapy. Neurotherapeutics. 2018;15(4):928-42. https://doi.org/10.1007/s13311-018-0655-y
Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2(2):145-66. https://doi.org/10.2174/1566524024605789
Ullah A, Zubaida B, Cheema HA, Naeem M. Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families. J Pediatr Endocrinol Metab. 2020;33(4):553-6. https://dx.doi.org/10.1515/jpem-2019-
Pompe JC. Over idiopatsche hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932; 76:304-12.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology. 2016;87(1):71–6. https://dx.doi.org/10.1212/WNL.0000000000002800
Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe’s disease). Biochem J. 1963;86:11–6. https://dx.doi.org/10.1042/bj0860011
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7(6):713-6. https://dx.doi.org/10.1038/sj.ejhg.5200367
Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019;7(13):284. https://dx.doi.org/10.21037/atm.2019.07.24
Schoser B, Hahn A, James E, Gupta D, Gitlin M, Prasad S. A systematic review of the health economics of Pompe disease. Pharmacoeconom Open. 2019;3(4):479–93. https://dx.doi.org/10.1007/s41669-019-0142-3
Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet [Internet]. 2012;379(9813):335–41. http://dx.doi.org/10.1016/s0140-6736(11)61266-x
Yang C-F, Liu H-C, Hsu T-R, Tsai F-C, Chiang S-F, Chiang C-C, et al. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am J Med Genet A. 2014;164A(1):54–61. https://dx.doi.org/10.1002/ajmg.a.36197
Ortiz Giraldo B, Cornejo Ochoa JW, Arango D. Enfermedad de Pompe: descripción de las características clínicas y de laboratorio de una familia colombiana. Acta Neurol Colomb [Internet]. 2011 [citado 2021 Sep 2];27(4):231–6. https://www.scielo.org.co/scielo.php?pid=S0120-87482011000400006&script=sci_abstract&tlng=es
Castrillón DPC, Benítez CAV, Naranjo MM. Enfermedad de Pompe: ¿Enfermedad rara o subdiagnosticada? Gp [Internet]. 2015 [citado 2021 Ago 3];17(1). https://revistas.univalle.edu.co/index.php/gastrohnup/article/view/1385
Barrera L, Algarín C, Rogríguez F, Bermúdez M, Sandoval H, Donados MI. Diagnóstico clínico-bioquímico de la enfermedad de Pompe. Acta Méd Colomb [Internet]. 1993 [citado 2021 Sep 2];172–6. https://pesquisa.bvsalud.org/portal/resource/pt/lil-183298
Neufeld EF. Unexpected observations--a tribute to Christian de Duve (1917-2013). FASEB J. 2013;27(12):4661–3. https://dx.doi.org/10.1096/fj.13-1201ufm
Reuser AJJ, van der Ploeg AT, Chien Y-H, Llerena J Jr, Abbott M-A, Clemens PR, et al. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Hum Mutat. 2019;40(11):2146–64. https://dx.doi.org/10.1002/humu.23878
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C(1):59–68. https://dx.doi.org/10.1002/ajmg.c.31318
Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012;199(5):723–34. https://dx.doi.org/10.1083/jcb.201208152
Boentert M, Prigent H, Várdi K, Jones HN, Mellies U, Simonds AK, et al. Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease. Int J Mol Sci. 2016;17(10):1735. https://dx.doi.org/10.3390/ijms17101735
Dubrovsky A, Fulgenzi E, De Vito EL, Barroso F, Berardo A, Bettini M, et al. Consenso argentino sobre enfermedad de Pompe de inicio tardío. Medicina (BAires) [Internet]. 2018 [citado 2021 Sep 2];1–23. https://pesquisa.bvsalud.org/portal/resource/pt/biblio-955004
Musumeci O, Toscano A. Diagnostic tools in late onset Pompe disease (LOPD). Ann Transl Med. 2019;7(13):286. https://dx.doi.org/10.21037/atm.2019.06.60
Llerena Junior JC, Nascimento OJ, Oliveira ASB, Dourado Junior MET, Marrone CD, Siqueira HH, et al. Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Arq Neuropsiquiatr. 2016;74(2):166–76. https://dx.doi.org/10.1590/0004-282X20150194
Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, et al. Pompe disease: Diagnosis and management. Evidence-based guidelines from a Canadian expert panel. Can J Neurol Sci. 2016;43(4):472–85. https://dx.doi.org/10.1017/cjn.2016.37
Dubrovsky A, Fulgenzi E, Amartino H, Carlés D, Corderi J, de Vito E, et al. Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe. Neurol Argent [Internet]. 2014 [citado 2021 Ago 10];6(2):96–113. https://www.elsevier.es/es-revista-neurologia-argentina-301-articulo-consenso-argentino-el-diagnostico-seguimiento-S1853002814000081
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab [Internet]. 2017;120(3):163–72. https://dx.doi.org/10.1016/j.ymgme.2016.12.004
Musumeci O, Marino S, Granata F, Morabito R, Bonanno L, Brizzi T, et al. Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis. Eur J Neurol. 2019;26(3):442-e35. https://dx.doi.org/10.1111/ene.13835
Malhotra K, Carrington DC, Liebeskind DS. Restrictive arteriopathy in late-onset Pompe disease: Case report and review of the literature. J Stroke Cerebrovasc Dis. 2017;26(8):e172–5. https://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2017.05.032
Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012;106(4):462–9. https://dx.doi.org/10.1016/j.ymgme.2012.05.007
Kretzschmar HA, Wagner H, Hübner G, Danek A, Witt TN, Mehraein P. Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci. 1990;98(2–3):169–83. https://dx.doi.org/10.1016/0022-510x(90)90258-o
Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, et al. Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey. JIMD Rep. 2014;17:53–61. https://dx.doi.org/10.1007/8904_2014_334
Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, et al. Bent spine syndrome as the initial symptom of late-onset Pompe disease: BSS as Initial Symptom of LOPD. Muscle Nerve. 2017;56(1):167–70. https://dx.doi.org/10.1002/mus.25478
Pardo J, García-Sobrino T, López-Ferreiro A. Gastrointestinal symptoms in late-onset Pompe disease: Early response to enzyme replacement therapy. J Neurol Sci. 2015;353(1–2):181–2. https://dx.doi.org/10.1016/j.jns.2015.04.012
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.