Genetics of Glycogen-Storage Disease Type VII Follow-up

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 19, 2011
 

Further Outpatient Care

  • Monitor renal function on a regular basis if a patient with Tarui disease (glycogen-storage disease type VII) has myoglobinuria.
  • Monitor hemoglobin and reticulocyte counts as well.
  • If the patient has hyperbilirubinemia, perform ultrasonography to evaluate the presence of gallstones.
Next

Deterrence/Prevention

  • Prenatal detection is possible in families with identifiable mutations.
Previous
Next

Complications

  • Renal failure may complicate myoglobinuria.
  • Gallstones may complicate hyperbilirubinemia.
Previous
Next

Prognosis

  • The small number of patients with the infantile variant have all died during early childhood.
  • The classic and late-onset types are relatively mild disorders with minor lifestyle restrictions.
Previous
Next

Patient Education

  • As with all genetic diseases, genetic counseling is appropriate.
Previous
 
Contributor Information and Disclosures
Author

Lynne Ierardi-Curto, MD, PhD  Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders

Disclosure: Genzyme Corporation Salary Management position

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.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Cydney L Fenton, MD, FAAP, and Melissa Wasserstein, MD, to the development and writing of this article.

References

  1. Tarui S, Okuno G, Ikura Y, et al. Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem Biophys Res Commun. May 3 1965;19:517-23. [Medline].

  2. Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol. Oct 2007;26(2):105-7. [Medline].

  3. Nakajima H, Raben N, Hamaguchi T, Yamasaki T. Phosphofructokinase deficiency; past, present and future. Curr Mol Med. Mar 2002;2(2):197-212. [Medline].

  4. Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med. Feb 7 1991;324(6):364-9. [Medline].

  5. Ono A, Kuwajima M, Kono N, Mineo I, Nakagawa C, Tarui S, et al. Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII. Neurology. Jan 1995;45(1):161-4. [Medline].

  6. Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. N Engl J Med. Dec 25 2003;349(26):2503-9. [Medline].

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

  8. Di Mauro S. Muscle glycogenoses: an overview. Acta Myol. Jul 2007;26(1):35-41. [Medline]. [Full Text].

  9. Madhoun MF, Maple JT, Comp PC. Phosphofructokinase deficiency and portal and mesenteric vein thrombosis. Am J Med Sci. May 2011;341(5):417-9. [Medline].

  10. Amit R, Bashan N, Abarbanel JM, et al. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve. 1992;14:455-458. [Medline].

  11. 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].

  12. Raben N, Sherman JB. Mutations in muscle phosphofructokinase gene. Hum Mutat. 1995;6(1):1-6. [Medline].

  13. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. Mar 2010;10(2):118-26. [Medline]. [Full Text].

  14. Chen YT. Glycogen storage diseases. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8th. New York, NY: McGraw-Hill Professionals; 2001:1521-51.

  15. Danon MJ, Carpenter S, Manaligod JR, Schliselfeld LH. Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology. Oct 1981;31(10):1303-7. [Medline].

  16. Danon MJ, Servidei S, DiMauro S, Vora S. Late-onset muscle phosphofructokinase deficiency. Neurology. Jun 1988;38(6):956-60. [Medline].

  17. 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].

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

  19. Guibaud P, Carrier H, Mathieu M, et al. [Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]. Arch Fr Pediatr. Dec 1978;35(10):1105-15. [Medline].

  20. Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol. Sep 2002;59(9):1395-402. [Medline].

  21. Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology. Sep 1981;31(9):1077-86. [Medline].

  22. Mineo I, Kono N, Hara N, et al. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. Jul 9 1987;317(2):75-80. [Medline].

  23. Servidei S, Bonilla E, Diedrich RG, et al. Fatal infantile form of muscle phosphofructokinase deficiency. Neurology. Nov 1986;36(11):1465-70. [Medline].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.