From liver enzymes to lysosomes: a serendipitous diagnosis of late-onset Pompe disease
Diagnosis of late-onset Pompe disease
DOI:
https://doi.org/10.17161/rrnmf.v6i3_2025.24030Keywords:
Late-onset Pompe disease, pregnancy , enzyme replacement therapyDownloads
References
1. Labella B, Piccinelli SC, Risi B, Filomena C, Damioli S, Bertella E, et al. A Comprehensive Update on Late-Onset Pompe Disease. Biomocules. Aug 2023;13(9):1279. doi: 10.3390/biom13091279
2. Leslie N, Bailey L. Pompe Disease. GeneReviews. 2023.
3. Meena NK, Raben N. Pompe Disease: New Developments in an Old Lysosomal Storage Disorder. Biomolecules. 2020;10(9):1339. doi: 10.3390/biom10091339
4. Kishnani, PS, Steiner RD, Bali D, Berger K, Byrne B, Case L, et al. Pompe disease diagnosis and management guideline. Genetics in Medicine. 2006; 8(5)267-288. doi: 10.1097/01.gim.0000218152.87434.f3
5. Pompe Disease GAA Variant Database. (n.d.). List of Pompe mutations. Retrieve April 18,2025, from https://www.pompevariantdatabase.clmz.nl/pompe_mutations_list.php?orderby=aMut_ID1 se
6. Fukuhara Y, Fuki N, Yamazaki N, Hirakiyama A, Kamioka T, Seo JH, et al. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Mol Genet Metab Rep. 2017 doi: 10.1016/j.ymgmr.2017.10.009
7. Wens S, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MGJM, van Doorn PA, et al. Remarkably low fibroblast GAA activity in three adults with Pompe disease. Mol Genet Metab. 2012 doi: 10.1016/j.ymgme.2012.09.003
8. Leslie N and Bailey L. Pompe Disease. GeneReviews 2007
9. Kuperus E, Van der Meijden JC, In ‘t Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, et al. The ACE I/D polymorphism dose not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe Disease. PLoS ONE. 2018; 13, e0208854. doi: 10.1371/journal.pone.0208854.
10. Morse RP, Posman NP. Diagnosis of occult muscular dystrophy: Importance of the “chance” finding of elevated serum aminotransferase activities. Journal of Pediatrics. Feb 1993. 122(2)254-256. DOI: 10.1016/S0022-3476(06)80126-5
11. Ghobrial C, Abdelhamid N, El-Karaksy H. Incidental hypertransaminasemia in children: Potential delay in diagnosis of muscle disease. Egyptian Pediatric Association Gazette. Dec 2018. 66(4)112-114. DOI: https://doi.org/10.1016/j.epag.2018.09.002
12. Hoeksma M, Boon M, Niezen-Koning KE, van Overbeek-van Gils L, van Spronsen FJ. Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr. Aug 2007;166(8):871-4. DOI: 10.1007/s00431-006-0315-9
13. Sanders KJC, Hermans MCE, Koek GH. Persistently elevated hepatic transaminases: a patient with late-onset Pompe disease. Ned Tijdschr Geneeskd. 2016:160:A9904. PMID 27229694
14. Meena NK, Raben N. Pompe Disease: New Developments in an Old Lysosomal Storage Disorder. Biomolecules. 2020 Sep;10(9):1339. doi 10.3390/biom10091339
15. Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, et al. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology. 2019 Nov;93(19)e1756-e1767 doi: 10.1212/WNL.0000000000008441
16. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-33. doi: 10.1002/mus.22329
17. Porcino M, Musumeci O, Usbergo C, Pugliese A, Arena IG, Rodolico C, et al. Management of Presymptomatic juvenile patients with late-onset Pompe disease (LOPD). Neuromuscular Disorders. 2025Feb;47, 105277 doi: 10.1016/j.nmd.2025.105277
18. Byrne P.I., Collins S., Mah C.C., Smith B., Conlon T., Martin S.D. Phase I/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease. Hum. Gene Ther. Clin. Dev. 2014;25:134–163. doi: 10.1089/humc.2014.2514.
19. Corti M., Liberati C., Smith B.K., Lawson L.A., Tuna I.S., Conlon T.J., et al. Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease. Hum. Gene Ther. Clin. Dev. 2017;28:208–218. doi: 10.1089/humc.2017.146.
20. Unnisa Z, Yoon JK, Schindler JW, Mason C, van Til NP. Gene Therapy Developments for Pompe Disease. Biomedicines. 2022 Jan;10(2):302 doi: 10.3390/biomedicines10020302
21. Molares-Vila A, Corbalan-Rivas A, Carnero-Gregorio M, Gonzalez-Cespon JL, Rodriguez-Cerdeira C. Biomarkers in Glycogen Storage Diseases: An Update. Int J Mol Sci. 2021 Apr;22(9):4381. Doi: 10.3390/ijms22094381
22. Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin Sl, Jennelle T, et al. Pregnancy Outcomes in Late Onset Pompe Disease. Life (Basel). 2020;10(9):194 doi: 10.3390/life10090194
23. de Vries JM, Brugma JD, Ozkan L, Steegers EA, Reuser AJ, Van Doorn PA, van der Ploeg AT. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011;104: 552-5 doi: 10.1016/j.ymgme.2011.09.012
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Copyright (c) 2025 Morgan C. Jordan DO, Kyle W. Ruffing MD, E. Lee Kugelmann MMSc GC, Marie L. Rivera-Zengotita MD
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