Glycogen Storage Disease, Type II (Pompe Disease) Clinical Presentation

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: May 28, 2010
 

History

  • In the infantile form, the caregiver may report feeding difficulties and difficulty breathing.[5] The child may also have an enlarged tongue and poor muscle tone.
  • An intermediate form manifests with muscle weakness in childhood.
  • In the adult form, the patient may have limb-girdle weakness. An important feature of the adult form is the respiratory muscle weakness.
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Physical

  • Infantile form
    • Several findings are characteristic, although many findings are not specific for this condition. Cardiomegaly is less likely in other diseases and helps confirm diagnosis.
    • Hypotonia is generalized and affects bulbar musculature.
    • Muscle atrophy is absent.
    • Congestive heart failure or cardiomegaly is an important finding and suggests the diagnosis. This may be accompanied by a systolic murmur.
    • Macroglossia may be present.
    • Hepatomegaly may be present.
    • Reflexes may be depressed or absent because of glycogen accumulation in spinal motor neurons.
    • Alertness may be impaired.
    • Diagnosis may be difficult because of calf hypertrophy, a rare finding that is characteristic of Duchenne muscular dystrophy.
  • Adult form
    • Findings may be less likely to suggest this diagnosis.
    • Particular muscle groups may be affected, such as the upper arms and pectoral muscles. Asymmetry of affected muscle groups may be present.
    • Limb-girdle weakness is a prominent finding.
    • Respiratory muscle involvement is a hallmark of Pompe disease.
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Contributor Information and Disclosures
Author

Wayne E Anderson, DO  Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center

Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Society of Law, Medicine & Ethics, California Medical Association, and San Francisco Medical Society

Disclosure: Cephalon Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; King Honoraria Speaking and teaching; Forest Honoraria Speaking and teaching

Specialty Editor Board

Barry J Goldstein, MD, PhD  Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University

Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and Endocrine Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kent Wehmeier, MD  Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Mark Cooper, MBBS, PhD, FRACP  Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD  Professor of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

References

  1. Lukacs Z, Nieves Cobos P, Mengel E, 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. Dec 23 2009;[Medline].

  2. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. Nov 1999;189(3):416-24. [Medline].

  3. Gort L, Coll MJ, Chabás A. Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation. Mol Genet Metab. Sep-Oct 2007;92(1-2):183-7. [Medline].

  4. Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. Aug 27 1998;79(1):69-72. [Medline].

  5. Jones HN, Muller CW, Lin M, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. Sep 10 2009;[Medline].

  6. Aminoff MJ. Electromyography in Clinical Practice. New York, NY: Churchill Livingstone; 1998.

  7. Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. Jan 14 2000;275(2):828-32. [Medline].

  8. Bijvoet AG, Van Hirtum H, Kroos MA. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. Nov 1999;8(12):2145-53. [Medline].

  9. Beck M. Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag. 2009;5:767-72. [Medline]. [Full Text].

  10. Strothotte S, Strigl-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. Jan 2010;257(1):91-7. [Medline].

  11. Phupong V, Shotelersuk V. Prenatal exclusion of Pompe disease by electron microscopy. Southeast Asian J Trop Med Public Health. Sep 2006;37(5):1021-4. [Medline].

  12. Chien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. Dec 2009;124(6):e1116-25. [Medline].

  13. Mah C, Cresawn KO, Fraites TJ Jr, Pacak CA, Lewis MA, Zolotukhin I. Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. Gene Ther. Sep 2005;12(18):1405-9. [Medline].

  14. Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. Feb 2000;18(1):151-65. [Medline].

  15. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. Jan 2000;105(1):e10. [Medline].

  16. Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Dec 1993;93(12):1423-30. [Medline].

  17. Hirshhorn R, Reuser A. Glycogen Storage Disease Type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3389-3420.

  18. Melvin JJ. Pompe's disease. Arch Neurol. Jan 2000;57(1):134-5. [Medline].

  19. Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. Aug 1 1998;102(3):507-15. [Medline].

  20. Sahin M, du Plessis AJ. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. Sep 1999;21(3):674-6. [Medline].

  21. Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990;13(4):411-8. [Medline].

  22. Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. Dec 27 1982;150(2):489-93. [Medline].

  23. Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. Jun 2005;11(6):889-98. [Medline].

  24. Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. Dec 1999;28(4):801-23. [Medline].

 
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Glycogen storage disease, type II. Metabolic pathways of carbohydrates.
 
 
 
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