Pompe disease - What do we currently know about the disease?
DOI:
https://doi.org/10.12775/JEHS.2023.13.04.007Keywords
Pompe Disease, glycogenosis type II, alpha glucosidaseAbstract
- Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfunction of these tissues. It is inherited in an autosomal recessive manner. The most common diagnostic methods include genetic tests and the measurement of enzyme activity in leukocytes or fibroblasts. A screening test is also available that tests the enzyme activity in dried blood spot (DBS). The treatment of PD is mostly based on synthetic GAA enzyme supply to the patients. The therapy reduces glycogen storage and improves muscle function, decreases heart size and prolongs the lives of those with infantile form of PD. In the adult onset of the disease treatment increases physical efficiency and reduces the progression of respiratory failure.
- Aim of the study: Systematization of current knowledge about Pompe disease with particular emphasis on possible clinical presentations, diagnostics and therapeutic options.
- Material and methods: Literature review based on PubMed data using the following keywords: Pompe disease, Glycogenosis type ii, glucosidase alpha
- Summary : Pompe disease is a rare disease with many problems related to diagnosis and possible therapies. Its symptoms can be very misleading and cause a delay in diagnosis . It is critical to start the therapy as soon as possible to best manage the disease. The prognosis of PD is poor, especially in children under 12 months of age. Gene therapy research is currently underway and early results are very promising. There is still much to learn about dealing with this disease.
References
Orchel-Szastak K, prof. dr hab. n. med. Bik-Multanowski M, Zakład Genetyki Medycznej, Uniwersytet Jagielloński Collegium Medicum Choroba Pompego-zarys diagnostyki i leczenia https://www.mp.pl/neurologia/choroby-rzadkie/choroba-pompego/artykuly/234352,choroba-pompego-zarys-diagnostyki-i-leczenia (dostęp: 04.12.2022r.)
Sebastian A Klinika Reumatologii i Chorób Wewnętrznych, Wrocław
https://www.mp.pl/reumatologia/smr-ptr/artykuly/119266,choroba-pompego (dostęp: 12.12.2022r.)
Marques JS. The Clinical Management of Pompe Disease: A Pediatric Perspective. Children (Basel). 2022 Sep 16;9(9):1404. doi: 10.3390/children9091404. PMID: 36138713; PMCID: PMC9497581.
Cerón-Rodríguez M, Castillo-García D, Acosta-Rodríguez-Bueno CP, Aguirre-Hernández J, Murillo-Eliosa JR, Valencia-Mayoral P, Escobar-Sánchez A, Salgado-Loza JL. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. Mol Genet Genomic Med. 2022 Jul;10(7):e1957. doi: 10.1002/mgg3.1957. Epub 2022 May 9. PMID: 35532199; PMCID: PMC9266604.
Unnisa Z, Yoon JK, Schindler JW, Mason C, van Til NP. Gene Therapy Developments for Pompe Disease. Biomedicines. 2022 Jan 28;10(2):302. doi: 10.3390/biomedicines10020302. PMID: 35203513; PMCID: PMC8869611.
Morales A, Anilkumar AC. Glycogen Storage Disease Type II. [Updated 2022 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470558/
Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics. 2018 Oct;15(4):928-942. doi: 10.1007/s13311-018-0655-y. PMID: 30117059; PMCID: PMC6277280.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Pompe disease: pathogenesis, molecular genetics and diagnosis. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. PMID: 32745073; PMCID: PMC7467391.
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.
Sawada T, Kido J, Nakamura K. Newborn Screening for Pompe Disease. Int J Neonatal Screen. 2020 Apr 5;6(2):31. doi: 10.3390/ijns6020031. PMID: 33073027; PMCID: PMC7423004.
Schoser B. Pompe disease: what are we missing? Ann Transl Med. 2019 Jul;7(13):292. doi: 10.21037/atm.2019.05.29. PMID: 31392204; PMCID: PMC6642932.
Tarnopolsky MA, Nilsson MI. Nutrition and exercise in Pompe disease. Ann Transl Med. 2019 Jul;7(13):282. doi: 10.21037/atm.2019.05.52. PMID: 31392194; PMCID: PMC6642937.
Umpleby AM, Trend PS, Chubb D, Conaglen JV, Williams CD, Hesp R, Scobie IN, Wiles CM, Spencer G, Sönksen PH. The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency. J Neurol Neurosurg Psychiatry. 1989 Aug;52(8):954-61. doi: 10.1136/jnnp.52.8.954. PMID: 2507747; PMCID: PMC1031833.
Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, O'Grady G, Heller JH, Kishnani PS. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010 Dec;25(4):277-83. doi: 10.1007/s00455-009-9252-x. Epub 2009 Sep 10. PMID: 19763689.
Peruzzo P, Pavan E, Dardis A. Molecular genetics of Pompe disease: a comprehensive overview. Ann Transl Med. 2019 Jul;7(13):278. doi: 10.21037/atm.2019.04.13. PMID: 31392190; PMCID: PMC6642931.
Meena NK, Raben N. Pompe Disease: New Developments in an Old Lysosomal Storage Disorder. Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339. PMID: 32962155; PMCID: PMC7564159.
Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014. Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. PMID: 25998612.
Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol. 2013 Aug;54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28. PMID: 23632029.
Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, Fuller DD, Cleaver BD, Clément N, Phillips D, Islam S, Dobjia N, Byrne BJ. Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther. 2013 Jun;24(6):630-40. doi: 10.1089/hum.2012.250. PMID: 23570273; PMCID: PMC3689178.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. PMID: 28185884.
Bolano-Diaz C, Diaz-Manera J. Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management. Ther Clin Risk Manag. 2022 Dec 13;18:1099-1115. doi: 10.2147/TCRM.S334232. PMID: 36536827; PMCID: PMC9759116.
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