Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Follow-up

1. Los E, Ford GA. Galactose-1-Phosphate Uridyltransferase Deficiency. 2023 Jan. [QxMD MEDLINE Link]. [Full Text].

2. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol. 2013 Aug. 54(4):219-27. [QxMD MEDLINE Link].

3. van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, 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 Nov 12. 7:88. [QxMD MEDLINE Link]. [Full Text].

4. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL,et, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. 2001. 3389-3420.

5. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998 Aug 27. 79 (1):69-72. [QxMD MEDLINE Link].

6. Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. J Inherit Metab Dis. 1987. 10 (1):11-7. [QxMD MEDLINE Link].

7. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999 Sep. 7(6):713-6. [QxMD MEDLINE Link].

8. Van der Kraan M, Kroos MA, Joosse M, Bijvoet AG, Verbeet MP, Kleijer WJ, et al. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun. 1994 Sep 30. 203 (3):1535-41. [QxMD MEDLINE Link].

9. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004 Feb. 12 (2):87-92. [QxMD MEDLINE Link].

10. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20. 281 (3):249-54. [QxMD MEDLINE Link].

11. Miyamoto Y, Etoh Y, Joh R, et al. Adult-onset acid maltase deficiency in siblings. Acta Pathol Jpn. 1985 Nov. 35(6):1533-42. [QxMD MEDLINE Link].

12. Bulkley BH, Hutchins GM. Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. Am Heart J. 1978 Aug. 96(2):246-52. [QxMD MEDLINE Link].

13. Galehdari H, Emami M, Mohammadian G, Khodadadi A, Azmoon S, Baradaran M. Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. Arch Iran Med. 2013 Feb. 16(2):126-8. [QxMD MEDLINE Link].

14. Amiñoso C, Vallespin E, Fernández L, Arrabal LF, Desviat LR, Pérez B, et al. Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element. Gene. 2013 Apr 25. 519(1):169-72. [QxMD MEDLINE Link].

15. Kroos MA, Pomponio RJ, Hagemans ML, et al. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology. 2007 Jan 9. 68(2):110-5. [QxMD MEDLINE Link].

16. Montalvo AL, 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 Oct. 27 (10):999-1006. [QxMD MEDLINE Link].

17. van der Beek NA, Soliman OI, van Capelle CI, Geleijnse ML, Vletter WB, Kroos MA, 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 Dec 15. 275(1-2):46-50. [QxMD MEDLINE Link].

18. Leslie N, Tinkle BT. Glycogen Storage Disease Type II (Pompe Disease). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1261/. Available at http://www.ncbi.nlm.nih.gov/books/NBK1261/. May 9, 2013; Accessed: January 20, 2016.

19. Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, et al. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C (1):50-8. [QxMD MEDLINE Link].

20. Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem. 2001 Aug. 47(8):1378-83. [QxMD MEDLINE Link].

21. Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 2000 Oct 24. 55 (8):1122-8. [QxMD MEDLINE Link].

22. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol. 2005 Aug. 252 (8):875-84. [QxMD MEDLINE Link].

23. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003 Aug. 112 (2):332-40. [QxMD MEDLINE Link].

24. Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009 Sep. 66(3):329-35. [QxMD MEDLINE Link].

25. Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar. 11(3):210-9. [QxMD MEDLINE Link].

26. Merk T, Wibmer T, Schumann C, Krüger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol. 2009 Feb. 16(2):274-7. [QxMD MEDLINE Link].

27. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul. 13(7):625-631. [QxMD MEDLINE Link]. [Full Text].

28. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [QxMD MEDLINE Link].

29. Ausems MG, Lochman P, van Diggelen OP, et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999 Mar 10. 52(4):851-3. [QxMD MEDLINE Link].

30. Clinical Trials. A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease. clinicaltrials.gov. Available at http://clinicaltrials.gov/ct/show/NCT00515398?order=2. Accessed: 2007.

31. Engel AG, Gomez MR, Seybold ME, Lambert EH. The spectrum and diagnosis of acid maltase deficiency. Neurology. 1973 Jan. 23(1):95-106. [QxMD MEDLINE Link].

32. Engel AG, Hirschhorn R. Acid maltase deficiency. Engel AG, Franzine-Armstrong C, eds. Myology: Basic and Clinical. New York, NY: McGraw-Hill; 1996. 1533-53.

33. Hirschhorn R. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. Scriver CR, Beaudet AL, Sly W, Valle E, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 1995. 2443-64.

34. Isaacs H, Savage N, Badenhorst M, Whistler T. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry. 1986 Sep. 49(9):1011-8. [QxMD MEDLINE Link].

35. Van der Beek NA, Hagemans ML, Reuser AJ, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord. 2009 Feb. 19(2):113-7. [QxMD MEDLINE Link].

36. Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Mengel E, Müller-Felber W, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008 Mar. 93 (3):275-81. [QxMD MEDLINE Link].

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Jennifer Ibrahim, MD Chief, Genetics Division, St Joseph's Children's Hospital

Jennifer Ibrahim, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article