Glycogen Storage Disease, Type VII Clinical Presentation

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: Jan 13, 2010
 

History

  • Severity varies based on an individual's enzyme activity level.
  • Symptoms include exercise intolerance (premature fatigability), weakness and stiffness with exercise, and painful muscle cramps. Symptoms resolve with rest.
  • Exercise intolerance is noted in childhood much earlier and is more severe in Tarui disease than in McArdle disease. The second wind phenomenon is not seen in Tarui disease as it is in McArdle disease. Haller and Vissing concluded that the inability to properly metabolize blood glucose prevents the spontaneous second wind.[3]
  • Exantus and colleagues report one case of acute renal failure secondary to rhabdomyolysis.[4]
  • Finsterer and colleagues report on one patient followed for several years.[5, 6] Neurologic symptoms believed attributable to Tarui disease include complex partial seizures, diplopia, hyporeflexia, central facial palsy, and upper extremity weakness.
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Physical

  • Physical examination findings may be normal; therefore, clinical suspicion must be derived from patient history findings.
  • Laboratory and procedural studies may be helpful.
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Causes

Phosphofructokinase is made of 4 peptides. A genetic defect has been discovered in the muscle subunit locus.

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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 Consulting

Specialty Editor Board

David M Klachko, MBBCh  Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri

David M Klachko, MBBCh is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Missouri State Medical Association, and Sigma Xi

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. Garcia M, Pujol A, Ruzo A, et al. Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet. Aug 2009;5(8):e1000615. [Medline]. [Full Text].

  2. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. Jan 13 2004;62(1):82-6. [Medline].

  3. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. Jan 13 2004;62(1):82-6. [Medline].

  4. Exantus J, Ranchin B, Dubourg L, et al. Acute renal failure in a patient with phosphofructokinase deficiency. Pediatr Nephrol. Jan 2004;19(1):111-3. [Medline].

  5. Finsterer J, Stollberger C, Kopsa W. Neurologic and cardiac progression of glycogenosis type VII over an eight-year period. South Med J. Dec 2002;95(12):1436-40. [Medline].

  6. Finsterer J, Stollberger C. Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease). Cardiology. 2008;110(4):238-40. [Medline].

  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, 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].

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

  10. Aminoff MJ, ed. Electromyography in Clinical Practice. 3rd ed. New York, NY: Churchill Livingstone; 1998.

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

  12. Chen Y. Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 1. 8th ed. New York, NY: McGraw-Hill; 2000:1539-40.

  13. DiMauro S, Bruno C. Glycogen storage diseases of muscle. Curr Opin Neurol. Oct 1998;11(5):477-84. [Medline].

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

  15. Lin HC, Young C, Wang PJ. Muscle phosphofructokinase deficiency (Tarui''s disease): report of a case. J Formos Med Assoc. Mar 1999;98(3):205-8. [Medline].

  16. Raben N, Sherman JB, Adams E. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui''s disease). Muscle Nerve. 1995;3:S35-8. [Medline].

  17. 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].

  18. 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].

  19. 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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