Acid Maltase Deficiency Myopathy Follow-up

  • Author: Michael Weinik, DO; Chief Editor: Denise I Campagnolo, MD, MS   more...
 
Updated: Jan 18, 2012
 

Deterrence

Acid maltase deficiency is an inherited, autosomal recessive disorder; therefore, there are no prevention measures for it.

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Complications

Respiratory and heart complications are common in the infantile form of acid maltase deficiency (AMD). Severe muscle weakness, including weakness of the respiratory muscles, is a complication of all 3 types of AMD.

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Prognosis

The infantile form of acid maltase deficiency has a very unfavorable prognosis. Death usually occurs between ages 6 months and 2 years. A less severe infantile form that exhibits a better prognosis and improved survival has been identified. Patients with the late infantile form may survive for several years.

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Patient Education

Educating patients and family members thoroughly about this condition is important. Parents and caregivers need to be instructed in all aspects of taking care of an infant or child with acid maltase deficiency (AMD). Increasing public awareness of this disease also is important, as more research is needed to find a cure for AMD.

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Contributor Information and Disclosures
Author

Michael Weinik, DO  Associate Chairman, Associate Professor, Physical Medicine and Rehabilitation, Temple University Hospital

Michael Weinik, DO is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Coauthor(s)

Frank J King, MD  Clinical Instructor, Department of Physical Medicine and Rehabilitation, Georgia Pain Physicians/Emory School of Medicine

Frank J King, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Specialty Editor Board

Elizabeth A Moberg-Wolff, MD  Medical Director, Pediatric Rehabilitation Medicine Associates

Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation

Disclosure: Medtronic Neurological None Speaking and teaching

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Kat Kolaski, MD  Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Kelly L Allen, MD  Medical Director, Medevals

Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS  Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consortium of MS Centers

Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers

Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching; Genzyme Corporation Grant/research funds investigator; Biogen Idec Grant/research funds investigator; Genentech, Inc Grant/research funds investigator; Eli Lilly & Company Grant/research funds investigator; Novartis investigator; MSDx LLC Grant/research funds investigator; BioMS Technology Corp Grant/research funds investigator; Avanir Pharmaceuticals Grant/research funds investigator

Additional Contributors

The editors would like to thank Daniel A Lee, MD, for his previous association with this article.

References

  1. Fukuda T, Roberts A, Plotz PH, et al. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. Jan 2007;7(1):71-7. [Medline].

  2. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. Oct 11 2008;372(9646):1342-53. [Medline].

  3. Bembi B, Cerini E, Danesino C, et al. Management and treatment of glycogenosis type II. Neurology. Dec 2 2008;71(23 Suppl 2):S12-36. [Medline].

  4. Richard E, Douillard-Guilloux G, Caillaud C. New insights into therapeutic options for Pompe disease. IUBMB Life. Nov 2011;63(11):979-86. [Medline].

  5. Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. Apr 15 2011;20:R61-8. [Medline]. [Full Text].

  6. Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. Mar 2005;128(Pt 3):671-7. [Medline]. [Full Text].

  7. Hagemans ML, Winkel LP, Hop WC, et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. Jun 28 2005;64(12):2139-41. [Medline].

  8. Hagemans ML, Hop WJ, Van Doorn PA, et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. Feb 28 2006;66(4):581-3. [Medline].

  9. Muller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. Oct 2007;17(9-10):698-706. [Medline].

  10. 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. Feb 2009;19(2):113-7. [Medline].

  11. Papadimas GK, Spengos K, Papadopoulos C, Manta P. Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis. Eur Neurol. Dec 15 2011;67(2):65-68. [Medline].

  12. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. Dec 2 2008;71(23 Suppl 2):S4-11. [Medline].

  13. Parenti G, Andria G. Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharm Biotechnol. Jun 2011;12(6):902-15. [Medline].

  14. Van den Hout H, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. Jul 29 2000;356(9227):397-8. [Medline].

  15. Rossi M, Parenti G, Della Casa R, et al. Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol. May 2007;22(5):565-73. [Medline].

  16. 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. Mar 2009;11(3):210-219. [Medline].

  17. Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. Oct 2008;5(4):569-78. [Medline].

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

  19. Behrman RE. Nelson Textbook of Pediatrics. 16th ed. Philadelphia, Pa: WB Saunders; 2000:. 411-13.

  20. Bijvoet AG, Van Hirtum H, Kroos MA, et al. 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].

  21. Bodamer OA, Halliday D, Leonard JV. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. Sep 12 2000;55(5):710-2. [Medline].

  22. Bradley WG. Neurology in Clinical Practice: The Neurological Disorders. 2nd ed. Boston, Mass: Butterworth-Heinemann; 1995:. 1537-38.

  23. Braunwald E. Heart Disease: A Textbook of Cardiovascular Medicine. 4th ed. Philadelphia, Pa: WB Saunders; 1992:. 995-6.

  24. Caliskan M, Yilmaz Y, Serdaroglu P, et al. Late infantile acid maltase deficiency: a case report. Turk J Pediatr. Jan-Mar 1999;41(1):121-5. [Medline].

  25. Chen YT, Amalfitano A. Towards a molecular therapy for glycogen storage disease type II (Pompe disease). Mol Med Today. Jun 2000;6(6):245-51. [Medline].

  26. Damjanov I, Linder J. Anderson's Pathology. 10th ed. St. Louis, Mo: Mosby; 1996:. 2699-2700.

  27. Goetz CG, Pappert EJ. Textbook of Clinical Neurology. Philadelphia, Pa: WB Saunders; 1999:. 571-3.

  28. McKusick VA. Mendelian Inheritance in Man. 10th ed. Baltimore, Md: Johns Hopkins University Press; 1992.

  29. McMillan JA. Oski's Pediatrics: Principles and Practice. 3rd ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 1999:. 1961, 1977-8.

  30. Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology. Oct 9 2001;57(7):1290-5. [Medline].

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

  32. Poenaru L. Approach to gene therapy of glycogenosis type II (Pompe disease). Mol Genet Metab. Jul 2000;70(3):163-9. [Medline].

  33. Rowland LP. Merritt's Textbook of Neurology. 9th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 1995:. 506.

  34. Scriver CR. The Metabolic Basis of Inherited Disease. 6th ed. New York, NY: McGraw-Hill; 1989:. 437-440.

  35. Selak MA, de Chadarevian JP, Melvin JJ, et al. Mitochondrial activity in Pompe's disease. Pediatr Neurol. Jul 2000;23(1):54-7. [Medline].

  36. Slonim AE, Bulone L, Ritz S, et al. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. Aug 2000;137(2):283-5. [Medline].

  37. Stryer L. Biochemistry. 3rd ed. New York, NY: WH Freeman & Co; 1988.

  38. Umapathysivam K, Whittle AM, Ranieri E, et al. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem. Sep 2000;46(9):1318-25. [Medline].

  39. van der Ploeg AT. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J. Dec 2005;26(6):984-5.

  40. Vorgerd M, Burwinkel B, Reichmann H, et al. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics. Mar 1998;1(3):205-11. [Medline].

  41. Winkel LP, Kamphoven JH, van den Hout HJ, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve. Jun 2003;27(6):743-51. [Medline].

  42. Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. Apr 2004;55(4):495-502.

 
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Glycogen molecule; by cleaving glycogen's 1,4 and 1,6 alpha-glycosidic linkages, the enzyme acid maltase gives rise to free glucose molecules.
Metabolic pathways of carbohydrates.
 
 
 
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