Pompe disease
ARTICLE PDF (Українська)

Keywords

Pompe disease, Sulfur Maltase deficiency (AMD), Type II glycogen accumulation disorder (GSD), Type II glycogenosis, Alpha-glucosidase deficiency

How to Cite

Svyrydova, N., YelizarovaО., & Svystun, N. (2017). Pompe disease. East European Journal of Neurology, (6(18), 3-10. https://doi.org/10.33444/2411-5797.2017.6(18).3-10

Abstract

. Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues, including cardiac muscle, liver, nervous system. The type of inheritance is autosomal recessive. In clinical practice, the detection of characteristic symptoms allows you to timely suspect Pompe disease. Sufficient awareness and alertness of the doctor about Pompe's disease, with a combination of characteristic symptoms, facilitates diagnosis. RT in T1 mode makes it easy to assess muscle tropism and to identify specific areas of fibrous-fat degeneration, which is characteristic of muscular dystrophy. The study of muscular biopsy in Pompe disease reveals a vacuated myopathy of lysosomal nature in determining the activity of acid phosphatase, in a histo-enzymatic study, as well as glycogen accumulation. The basis of the biochemical diagnosis of Pompe disease is the study of the activity of the enzyme GAA with the help of natural or synthetic substrates in the acidic medium. Modern molecular biology techniques can predict the severity of the disease, which correlates with the residual activity of the enzyme. Life-long enzyme replacement therapy for recombinant human acid α-glucosidase in patients with a confirmed diagnosis of Pompe disease is recommended. Enzyme replacement therapy helps preserve life for patients with Pompe disease, improves its quality and slows the progression of the disease. The early start of therapy is very important, because it allows you to achieve the best clinical results. The use of enzyme replacement therapy in childhood disease has been shown to reduce the risk of death by 99%, and the risk of death or need for invasive ventilation is 92%. In the presence of a confirmed diagnosis of Pompe disease, regardless of the age of the patient, pathogenetic therapy with alglucosidase alfa should be initiated immediately.

https://doi.org/10.33444/2411-5797.2017.6(18).3-10
ARTICLE PDF (Українська)

References

1.Raben N, Plotz P, Byrne BJ. (2002) Acid a-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med no 2, pp. 66-145.
2.Pompe Center. Molecular aspects: mutations. URL:http://cluster15.erasmusmc.nl/klgn/pompe/mutations.html.[17.10.2011].
3.Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, et al. (2008) Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab no 93, pp. 81-275.
4.Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. (2006) Pompe disease diagnosis and management guideline. Genet Med no 8, pp. 88-267.
5.Chien Y, Lee N, Thurberg B, et al. (2009) Pompe disease in infants: Improving the prognosis by newborn screening and early treatment. Pediatrics. pp.1116–1125.
6.The official website of Pompe disease in Ukraine
Retrieved from https://www.pompe-disease.com.ua/uk/u-ditey-ta-doroslyh [in Ukrainian]
7.American Association of Neuromuscular & Electrodiagnostic Medicine. (2009) Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve no 40, pp.60-149.
8. C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.), (2001) The metabolic and molecular bases of inherited disease, McGraw-Hill, New York , pp. 3389-3420
9.Pompe J.C. (1932) Over idiopathische hypertrofie van het hart. Ned Tijdschr Geneeskd pp.11-304.
10.T.M. Ko, W.L. Hwu, Y.W. Lin, L.H. Tseng, H.L. Hwa, T.R. Wang, et al. (1999)Molecular genetic study of Pompe disease in Chinese patients in Taiwan Hum Mutat, 13, pp. 380-384
11.Barba-Romero M.A., Barrot E., Bautista-Lorite J. et al.( 2012) Сlinical guidelines for late-onset Pompe disease. Rev Neurol no 54 (8),pp. 497-507.
12.Fukuda T., Ewan L., Bauer M. et al. (2006)Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.Ann Neurol no59, pp.8-70.
13.Сupler E., Berger K., Leshner R. et al. (2012)Consensus treatment recommendations for late-onset Pompe Disease. Muscle and Nerve. no45(3), pp.319-333.
14.Llerena J.C., Horovitz D.M., Nagahashi Marie S.K. et al. (2009) The Brazilian Consensus on the Management of Pompe Disease. The Journal of pediatrics. no 155(4 Suppl), pp. 47-56
15.M.G. Ausems, J. Verbiest, M.P. Hermans, M.A. Kroos, F.A. Beemer, J.H. Wokke, et al. (1999),Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling Eur J Hum Genet, no7, pp. 713-716
16.Y.H. Chien, S.C. Chiang, X.K. Zhang, J. Keutzer, N.C. Lee, A.C. Huang, et al.Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program Pediatrics, 122 (2008), pp. e39-e45
17.Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Y. (2012) Infantile Pompe disease: Clinical picture, diagnosis, and treatment. Neuromuscular Diseases. no 4, pp.66-73. [in Russian]

18.Kishnani P, Corzo D, Leslie N, et al. (2009)Early treatment with alglucosidase alfa prolongs long term survival of infants with Pompe disease. Pediatr Res. no 66(3), pp. 35-329.
19. Hagemans M, Winkel , Hop W, et al. (2005)Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. pp.2139-2141.
20. Desnuelle C. (2012) Pozdnjaja forma bolezni Pompe: diagnosticheskie i terapevticheskie podhody Nervno-myshechnye bolezni. [Late form of Pompe disease: diagnostic and therapeutic approaches.]Neuromuscular diseases. no3, pp.20-32[in Russian]
21. Carlier R.Y., Laforet P., Wary C. et al. (2011) Whole‑body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord pp.9-791.
22. Wary C., Laforêt P., Eymard B. et al. (2003)Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult‑onset acid maltase deficiency. Neuromuscul Disord pp.545−53.
23.Nascimbeni A.C., Fanin M., Tasca E. et al. (2008) Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology no 70(8)pp.617−26.
24. Van der Ploeg A.T., Reuser A. (2008) Pompe's disease. Lancet pp.53 - 372.
25.Winkel L, Hagemans M, van Doorn P, et al. (2005) The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. pp 84- 875.