glycogen storage disease type ii

Summary

Summary: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

Top Publications

  1. Angelini C. State of the art in muscle glycogenoses. Acta Myol. 2010;29:339-42 pubmed
    ..Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease)...
  2. Nemes A, Soliman O, Geleijnse M, Anwar A, van der Beek N, van Doorn P, et al. Increased aortic stiffness in glycogenosis type 2 (Pompe's disease). Int J Cardiol. 2007;120:138-41 pubmed
    Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, is an autosomal recessive disorder in which deficient activity of the enzyme acid alpha-glucosidase causes intra-lysosomal accumulation of ..
  3. Raben N, Schreiner C, Baum R, Takikita S, Xu S, Xie T, et al. Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease. Autophagy. 2010;6:1078-89 pubmed publisher
    ..The suppression of autophagy, which has proven successful in the Pompe model, is a novel therapeutic approach that may be useful in other diseases with disturbed autophagy...
  4. de Vries J, Brugma J, Ozkan L, Steegers E, Reuser A, van Doorn P, et al. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011;104:552-5 pubmed publisher
    ..In this case report, the continuation of treatment with alglucosidase alfa during pregnancy and lactation has been safe for the mother and the child...
  5. Müller Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17:698-706 pubmed
    ..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
  6. Nascimbeni A, Fanin M, Masiero E, Angelini C, Sandri M. The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). Cell Death Differ. 2012;19:1698-708 pubmed publisher
    ..Defects in lysosomal function result in severe muscle disorders such as Pompe (glycogen storage disease type II (GSDII)) disease, characterized by an accumulation of autophagosomes...
  7. Kroos M, Hoogeveen Westerveld M, van der Ploeg A, Reuser A. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:59-68 pubmed publisher
    ..The present day challenge is to identify these factors and explore them as therapeutic targets...
  8. Angelini C, Semplicini C. Enzyme replacement therapy for Pompe disease. Curr Neurol Neurosci Rep. 2012;12:70-5 pubmed publisher
    Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose...
  9. van der Beek N, de Vries J, Hagemans M, Hop W, Kroos M, Wokke J, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis. 2012;7:88 pubmed publisher
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...

More Information

Publications62

  1. Tajima Y, Matsuzawa F, Aikawa S, Okumiya T, Yoshimizu M, Tsukimura T, et al. Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase". J Hum Genet. 2007;52:898-906 pubmed
    ..Structural study on a mutant acid alpha-glucosidase in silico combined with biochemical investigation is useful for understanding the molecular pathology of Pompe disease...
  2. Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2010;33:43-50 pubmed publisher
    ..Recently, acarbose was found to inhibit MGA activity selectively, so that dried blood became accessible for GAA assessment...
  3. Ziegler R, Bercury S, Fidler J, Zhao M, Foley J, Taksir T, et al. Ability of adeno-associated virus serotype 8-mediated hepatic expression of acid alpha-glucosidase to correct the biochemical and motor function deficits of presymptomatic and symptomatic Pompe mice. Hum Gene Ther. 2008;19:609-21 pubmed publisher
    ..However, early therapeutic intervention is required to maintain significant muscle function and should be an important consideration in the management and treatment of Pompe disease...
  4. Rigter T, Weinreich S, van El C, de Vries J, Van Gelder C, Güngör D, et al. Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Mol Genet Metab. 2012;107:448-55 pubmed publisher
    ..The severely impaired health status reported here provides a strong argument for earlier diagnosis and to further explore the potential of neonatal screening for Pompe disease...
  5. Goldstein J, Young S, Changela M, Dickerson G, Zhang H, Dai J, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve. 2009;40:32-6 pubmed publisher
    Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA)...
  6. Labrousse P, Chien Y, Pomponio R, Keutzer J, Lee N, Akmaev V, et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab. 2010;99:379-83 pubmed publisher
    ..Therefore, newborn screening for Pompe disease could be successfully conducted by including genotyping and lymphocyte GAA assay, even in a population with mutation heterozygosity and pseudodeficiency...
  7. Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, et al. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol. 2012;259:952-8 pubmed publisher
    ..These results, obtained in a large case series on therapy, indicate a favourable effect of ERT therapy, even in more advanced stage of the disease...
  8. Slingerland N, Polling J, van Gelder C, Van der Ploeg A, Bleyen I. Ptosis, extraocular motility disorder, and myopia as features of pompe disease. Orbit. 2011;30:111-3 pubmed publisher
  9. Montalvo A, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, et al. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006;27:999-1006 pubmed
    b>Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes...
  10. Chien Y, Hwu W, Lee N. Pompe disease: early diagnosis and early treatment make a difference. Pediatr neonatol. 2013;54:219-27 pubmed publisher
    Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid ?-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal ..
  11. Raben N, Takikita S, Pittis M, Bembi B, Marie S, Roberts A, et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy. 2007;3:546-52 pubmed
    ..We have previously shown excessive autophagy in a mouse model of Pompe disease (glycogen storage disease type II), a devastating myopathy caused by a deficiency of the glycogen-degrading lysosomal enzyme acid alpha-..
  12. Tiels P, Baranova E, Piens K, De Visscher C, Pynaert G, Nerinckx W, et al. A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes. Nat Biotechnol. 2012;30:1225-31 pubmed publisher
  13. Kiang A, Amalfitano A. Progress and problems when considering gene therapy for GSD-II. Acta Myol. 2007;26:49-52 pubmed
  14. Sun B, Zhang H, Benjamin D, Brown T, Bird A, Young S, et al. Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. Mol Ther. 2006;14:822-30 pubmed
    b>Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) is an inherited muscular dystrophy caused by deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA)...
  15. van Capelle C, van der Beek N, de Vries J, van Doorn P, Duivenvoorden H, Leshner R, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2012;35:317-23 pubmed publisher
    ..In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease...
  16. Hagemans M, van Schie S, Janssens A, van Doorn P, Reuser A, Van der Ploeg A. Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007;254:941-5 pubmed
    ..To investigate the prevalence and severity of fatigue in adult patients with Pompe disease...
  17. Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni G, et al. Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis. 2010;33:737-45 pubmed publisher
    ..The better outcome of patients with low BMI, if confirmed, may indicate that dietary protocols could be adopted as adjuvant measures to ERT in adult GSDII...
  18. Douillard Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet Deniau I, et al. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. Hum Mol Genet. 2010;19:684-96 pubmed publisher
    b>Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation...
  19. Sun B, Bird A, Young S, Kishnani P, Chen Y, Koeberl D. Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am J Hum Genet. 2007;81:1042-9 pubmed
    ..Thus, AAV vector-mediated gene therapy induced a tolerance to introduced GAA, and this strategy could enhance the efficacy of ERT in CRIM-negative patients with Pompe disease and in patients with other lysosomal storage diseases...
  20. Dubrovsky A, Corderi J, Karasarides T, Taratuto A. Pompe disease, the must-not-miss diagnosis: A report of 3 patients. Muscle Nerve. 2013;47:594-600 pubmed publisher
    ..It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early mortality of the disease...
  21. Van der Ploeg A, BAROHN R, Carlson L, Charrow J, Clemens P, Hopkin R, et al. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012;107:456-61 pubmed publisher
    ..This extension study was conducted to determine the durability of the efficacy and safety of alglucosidase alfa observed over a period of 78 weeks in the Late-Onset Treatment Study (LOTS)...
  22. Smith W, Sullivan Saarela J, Li J, Cox G, Corzo D, Chen Y, et al. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A. 2007;143A:2493-501 pubmed
    ..This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling...
  23. Ravaglia S, Repetto A, De Filippi P, Danesino C. Ptosis as a feature of late-onset glycogenosis type II. Neurology. 2007;69:116; author reply 116 pubmed
  24. Schüller A, Wenninger S, Strigl Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80-8 pubmed publisher
    ..Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc...
  25. Pittis M, Filocamo M. Molecular genetics of late onset glycogen storage disease II in Italy. Acta Myol. 2007;26:67-71 pubmed
    b>Glycogen Storage Disease Type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in glycogen accumulation in the lysosomes...
  26. Banugaria S, Prater S, Ng Y, Kobori J, Finkel R, Ladda R, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13:729-36 pubmed publisher
  27. Maga J, Zhou J, Kambampati R, Peng S, Wang X, Bohnsack R, et al. Glycosylation-independent lysosomal targeting of acid ?-glucosidase enhances muscle glycogen clearance in pompe mice. J Biol Chem. 2013;288:1428-38 pubmed publisher
    ..The GILT-tagged GAA enzyme may provide an improved enzyme replacement therapy for Pompe disease patients...
  28. Bali D, Goldstein J, Banugaria S, Dai J, Mackey J, Rehder C, et al. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet. 2012;160C:40-9 pubmed publisher
    ..Continued studies in this area will help to increase the power of GAA gene mutations in predicting CRIM status as well as possibly identifying CRIM-positive patients who are at risk for developing high antibody titers...
  29. Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, et al. Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. Orphanet J Rare Dis. 2013;8:159 pubmed publisher
    ..Studies on large informative families are advisable to better define how genetics and non genetics factors like exercise and diet may influence the clinical phenotype...
  30. Koeberl D, Luo X, Sun B, McVie Wylie A, Dai J, Li S, et al. Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle. Mol Genet Metab. 2011;103:107-12 pubmed publisher
    ..In summary, enhanced CI-MPR expression might improve the efficacy of enzyme replacement therapy in Pompe disease through enhancing receptor-mediated uptake of GAA...
  31. Schoser B, Müller Höcker J, Horvath R, Gempel K, Pongratz D, Lochmuller H, et al. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol. 2007;33:544-59 pubmed
    ..These findings may have implications for our understanding of the pathogenesis of GSD2 and for assessing therapeutic success of enzyme replacement therapy...
  32. Winchester B, Bali D, Bodamer O, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93:275-81 pubmed
    ..A second test should be done to support the diagnosis of Pompe disease until a program for external quality assurance and proficiency testing of the enzymatic diagnosis in blood is established...
  33. Van der Beek N, Soliman O, van Capelle C, Geleijnse M, Vletter W, Kroos M, et al. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. J Neurol Sci. 2008;275:46-50 pubmed publisher
    ..32-13T>G genotype to determine the usefulness of cardiac screening in these patients with relatively 'milder' phenotypes...
  34. Kawagoe S, Higuchi T, Meng X, Shimada Y, Shimizu H, Hirayama R, et al. Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells. Mol Genet Metab. 2011;104:123-8 pubmed publisher
    ..This study indicates that the iPS and skeletal muscle cells generated in this study could also be a useful disease model for studies investigating the pathogenesis and treatment of skeletal muscle in Pompe disease...
  35. Abbott M, Prater S, Banugaria S, Richards S, Young S, Rosenberg A, et al. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab. 2011;104:583-6 pubmed publisher
  36. Bembi B, Pisa F, Confalonieri M, Ciana G, Fiumara A, Parini R, et al. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010;33:727-35 pubmed publisher
    ..Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII...
  37. Schneider I, Hanisch F, Müller T, Schmidt B, Zierz S. Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr. 2013;163:40-4 pubmed publisher
    ..ERT seems to stabilize pulmonary function and may delay the requirement for ventilation in patients with late-onset Pompe disease...
  38. Fuller M, Duplock S, Turner C, Davey P, Brooks D, Hopwood J, et al. Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouse. Anal Biochem. 2012;421:759-63 pubmed publisher
    ..Glycogen storage was also evident at birth in these tissues. This method may be particularly useful for longitudinal assessment of glycogen reduction in response to experimental therapies being trialed in this model...
  39. Kroos M, Pomponio R, Van Vliet L, Palmer R, Phipps M, Van der Helm R, et al. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat. 2008;29:E13-26 pubmed publisher
    ..The disease was classified as glycogen storage disease type II and decades later shown to be a lysosomal disorder caused by acid alpha-glucosidase deficiency...
  40. Takikita S, Myerowitz R, Zaal K, Raben N, Plotz P. Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches. Mol Genet Metab. 2009;96:208-17 pubmed publisher
  41. Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008;5:569-78 pubmed publisher
    b>Glycogen storage disease type II (GSDII)/Pompe disease is an autosomal recessive multi-system disorder due to a deficiency of the glycogen-degrading lysosomal enzyme, acid alpha-glucosidase...
  42. Byrne B, Kishnani P, Case L, Merlini L, Müller Felber W, Prasad S, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011;103:1-11 pubmed publisher
    ..As the largest dataset on Pompe disease to date, the Pompe Registry will serve to improve recognition of the disease, enhance understanding of the variable disease course, and offer insights into treated and untreated disease course...
  43. Nascimbeni A, Fanin M, Tasca E, Angelini C. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology. 2008;70:617-26 pubmed publisher
    ..To examine at molecular, biochemical, and muscle pathology level the striking clinical heterogeneity resulting from acid alpha-glucosidase deficiency...
  44. Douillard Guilloux G, Mouly V, Caillaud C, Richard E. Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease. Biochem Biophys Res Commun. 2009;388:333-8 pubmed publisher
    b>Glycogen storage disease type II (GSDII) is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase (GAA) gene leading to lysosomal glycogen accumulation, mainly in cardiac and muscle tissues...
  45. Laforet P, Doppler V, Caillaud C, Laloui K, Claeys K, Richard P, et al. Rigid spine syndrome revealing late-onset Pompe disease. Neuromuscul Disord. 2010;20:128-30 pubmed publisher
  46. Alcántara Ortigoza M, González del Angel A, Barrientos Ríos R, Cupples C, Garrido García L, de Leon Bojorge B, et al. Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene. J Child Neurol. 2010;25:1034-7 pubmed publisher
    ..32-13T>G in our patient could reflect the genetic contribution of European ancestry to the Mexican population. The enzymatic screening of GSD2 could be justified in patients with myopathies of unknown etiology...
  47. Chien Y, Lee N, Huang H, Thurberg B, Tsai F, Hwu W. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011;158:1023-1027.e1 pubmed publisher
    ..To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease...
  48. Parenti G, Andria G. Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharm Biotechnol. 2011;12:902-15 pubmed
    ..Pre-clinical studies demonstrated a synergistic effect of pharmacological chaperones and ERT. Other approaches, also in a pre-clinical stage, include substrate reduction and gene therapy...
  49. Sidman R, Taksir T, Fidler J, Zhao M, Dodge J, Passini M, et al. Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice. J Neuropathol Exp Neurol. 2008;67:803-18 pubmed publisher
    ..A better understanding of the basis for clinical manifestations is needed to correlate CNS pathology with Pompe disease manifestations...
  50. van Capelle C, Winkel L, Hagemans M, Shapira S, Arts W, Van Doorn P, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008;18:447-52 pubmed publisher
    ..He showed further improvement of strength and reached normal values for age during the extension phase. The results indicate that both long-term follow-up and timing of treatment are important topics for future studies...
  51. Yanovitch T, Banugaria S, Proia A, Kishnani P. Clinical and histologic ocular findings in pompe disease. J Pediatr Ophthalmol Strabismus. 2010;47:34-40 pubmed publisher
    ..Limited information is available on the ocular findings in patients with Pompe disease...
  52. Hobson Webb L, Jones H, Kishnani P. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23:319-23 pubmed publisher
    ..Further studies, including examination of the relationship between lingual weakness and oropharyngeal dysphagia, are warranted...
  53. Chien Y, Lee N, Peng S, Hwu W. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res. 2006;60:349-52 pubmed
    ..Improvement in brain myelination could be seen in those who survive by effective treatment, although we do not know whether ERT does have a direct therapeutic effect on the brain...