Pompe disease, a rare condition in two patients, case reports

Omar Yousef; Mohammad Al-Jafari; Mohammad Jaber; Mutayam Abu-Qudairi; Raja Al-Zreqat; Mohammad Abu-Jeyyab

doi:10.58877/japaj.v1i1.23

Authors

Omar Yousef School of medicine, Mutah university
Mohammad Al-Jafari school of medicine, Mutah university
Mohammad Jaber school of medicine, Mutah university
Mutayam Abu-Qudairi school of medicine, Mutah university
Raja Al-Zreqat Pediatrics department, Albasheer hospital
Mohammad Abu-Jeyyab school of medicine, Mutah university

DOI:

https://doi.org/10.58877/japaj.v1i1.23

Keywords:

Pompe disease, genetic disorders, cardiomyopathy, enzyme replacement therapy

Abstract

Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement.

Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time.

The key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis.

Recombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR).

Two cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.

References

Taverna, S., Cammarata, G., Colomba, P., Sciarrino, S., Zizzo, C., Francofonte, D., Zora, M., Scalia, S., Brando, C., Curto, A. L., Marsana, E. M., Olivieri, R., Vitale, S., & Duro, G. (2020). Pompe disease: pathogenesis, molecular genetics, and diagnosis. Aging, 12(15), 15856–15874. https://doi.org/10.18632/aging.103794

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., & van der Ploeg, A. T. (2003). The natural course of infantile Pompe's disease: twenty original cases compared with 133 cases from the literature. Pediatrics, 112(2), 332–340. https://doi.org/10.1542/peds.112.2.332

Chen, M., Zhang, L., & Quan, S. (2017). Enzyme replacement therapy for infantile-onset Pompe disease. The Cochrane database of systematic reviews, 11(11), CD011539. https://doi.org/10.1002/14651858.CD011539.pub2

Kishnani, P. S., Corzo, D., Leslie, N. D., Gruskin, D., Van der Ploeg, A., Clancy, J. P., Parini, R., Morin, G., Beck, M., Bauer, M. S., Jokic, M., Tsai, C. E., Tsai, B. W., Morgan, C., O'Meara, T., Richards, S., Tsao, E. C., & Mandel, H. (2009). Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatric research, 66(3), 329–335. https://doi.org/10.1203/PDR.0b013e3181b24e94

H. V. Palahuta, O. Y. Fartushna, O. G. Selina, Y. M. Fartushnyi, and T. V. Koval, “Glycogen Storage Disease Type Ii: a Narrative Literature Review and a Case Report of Late-Onset Pompe Disease in a Young White Child,” Wiad. Lek., vol. 74, no. 4, pp. 1032–1036, 2021, doi: 10.36740/wlek202104141.

P. Roach, “Glycogen and its Metabolism,” Curr. Mol. Med., vol. 2, no. 2, pp. 101–120, 2005, doi: 10.2174/1566524024605761.

I. N. Saltik et al., “Glycogen storage disease type I a: Frequency and clinical course in Turkish children,” Indian J. Pediatr., vol. 67, no. 7, pp. 497–501, 2000, doi: 10.1007/BF02760476.

A. Jegadeeswari, V. Amuthan, R. A. Janarthanan, S. Murugan, and S. Balasubramanian, “Two cases of Pompe’s disease: Case report and review of literature,” Indian Heart J., vol. 64, no. 2, pp. 214–216, 2012, doi: 10.1016/S0019-4832(12)60067-4.

J. Al-Hashel and I. Ismail, “Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement,” Case Rep. Neurol., pp. 98–103, 2022, doi: 10.1159/000521524.

D. D. Fuller et al., “CASE STUDIES IN NEUROSCIENCE Neuroscience of Disease Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease,” 2021, doi: 10.1152/jn.00190.2021.

Davison JE. Advances in diagnosis and management of Pompe disease. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498; PMCID: PMC8518093.

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S. Cross-reactive immunologic material status afects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99(1):26–33. doi: 10.1016/j.ymgme.2009.08.003. et al. [PMC free article] [PubMed] [CrossRef] [Google Scholar] [Ref list]

Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. J Inherit Metab Dis. 2016;39(2):261–71. doi: 10.1007/s10545-015-9898-5. et al. [PubMed] [CrossRef] [Google Scholar]

Do HV, Khanna R, Gotschall R. Challenges in treating Pompe disease: an industry perspective. Ann Transl Med. 2019 Jul;7(13):291. doi: 10.21037/atm.2019.04.15. PMID: 31392203; PMCID: PMC6642928.

Reuser AJJ, Kroos MA, Ponne NJ, et al. Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients. Exp Cell Res 1984; 155:178-89. 10.1016/0014-4827(84)90779-1 [PubMed] [CrossRef] [Google Scholar]

Van der Ploeg AT, Loonen MCM, Bolhuis BA, et al. Receptor-mediated uptake of acid α-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle. Pediatr Res 1988;24:90-4 10.1203/00006450-198807000-00021 [PubMed] [CrossRef] [Google Scholar]

Puzzo F, Colella P, Biferi MG, Bali D, Paulk NK, Vidal P. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. Sci Transl Med. 2017;9(418) doi: 10.1126/scitranslmed. aam6375. et al. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

Kishnani PS, Koeberl DD. Liver depot gene therapy for Pompe disease. Ann Transl Med. 2019;7(13):288. doi: 10.21037/atm.2019.05.02. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

Ronzitti G, Collaud F, Laforet P, Mingozzi F. Progress, and challenges of gene therapy for Pompe disease. Ann Transl Med. 2019;7(13):287. doi: 10.21037/atm.2019.04.67. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

de Vries, J.M., van der Beek, N.A., Hop, W.C. et al. Effect of enzyme therapy and prognostic factors in sixty-nine adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 7, 73 (2012). https://doi.org/10.1186/1750-1172-7-73