eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Glycogen-Storage Disease Type IV: Treatment & Medication

Author: Lynne Ierardi-Curto, MD, PhD, Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services
Contributor Information and Disclosures

Updated: Apr 27, 2009

Treatment

Medical Care

  • See Consultations for treatment options in glycogen-storage disease type IV (GSD IV).

Surgical Care

  • In patients with classic glycogen-storage disease type IV, liver transplantation is the most effective treatment. Practice guidelines for the evaluation of the patient for liver transplantation have been established by the American Association for the Study of Liver Diseases.5
  • Immediate complications of liver transplantation include postoperative complications and organ rejection. Because glycogen-storage disease type IV is a multisystem disorder, the long-term success of liver transplantation and its effect on the disease progression in other organs is unclear.
  • Although several patients have reportedly experienced decreased progression and systemic regression after hepatic allografting, presumably due to systemic microchimerism, some patients develop progressive accumulation of abnormal glycogen in other organs after transplantation, ultimately leading to death.

Consultations

  • Patients with liver involvement require a pediatric gastroenterologist for initial evaluation and long-term management of liver dysfunction and cirrhosis. The severity of liver dysfunction and complications of portal hypertension determine medical management.
  • A patient who presents with clinical symptoms of neuromuscular involvement requires a pediatric neurologist for initial evaluation and management.
  • A pediatric cardiologist is recommended for initial evaluation and medical management of the few patients who present with symptoms of cardiac compromise.
  • Refer a patient with suspected glycogen-storage disease type IV to a metabolic or biochemical genetics specialist for diagnostic evaluation.
  • Refer a patient with liver dysfunction to a dietitian experienced with the nutritional support of progressive hepatic failure.
  • Refer the family of an affected child to a medical geneticist or genetic counselor to review the inheritance of glycogen-storage disease type IV and to discuss prenatal diagnostic testing. Because inheritance is autosomal recessive, parents have a 25% risk of an affected offspring with each pregnancy.

Diet

  • If the patient has liver disease, dietary management is necessary to provide adequate nutrient intake to maintain normoglycemia and to improve liver function.
  • In patients with classic symptoms who develop progressive liver cirrhosis that necessitates liver transplantation, proper dietary intervention has improved muscle strength and allowed additional time for growth before surgery.

Activity

  • Do not restrict activity unless the patient experiences acute symptoms of liver failure and complications of cirrhosis.

Medication

  • Medications requirements in glycogen-storage disease type IV (GSD IV) depend on any organ system abnormalities.

More on Glycogen-Storage Disease Type IV

Overview: Glycogen-Storage Disease Type IV
Differential Diagnoses & Workup: Glycogen-Storage Disease Type IV
Treatment & Medication: Glycogen-Storage Disease Type IV
Follow-up: Glycogen-Storage Disease Type IV
Multimedia: Glycogen-Storage Disease Type IV
References
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References

  1. Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. Nov 2008;116(5):491-506. [Medline].

  2. Raju GP, Li HC, Bali DS, et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. Mar 2008;23(3):349-52. [Medline].

  3. Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. Apr 2008;37(4):530-6. [Medline].

  4. Konstantinidou AE, Anninos H, Dertinger S, et al. Placental involvement in glycogen storage disease type IV. Placenta. Apr 2008;29(4):378-81. [Medline].

  5. Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. Jun 2005;41(6):1407-32. [Medline].

  6. L'hermine-Coulomb A, Beuzen F, Bouvier R, et al. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A. Dec 1 2005;139(2):118-22. [Medline].

  7. Akman HO, Karadimas C, Gyftodimou Y. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn. Oct 2006;26(10):951-955. [Medline].

  8. Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. Feb 15 1996;97(4):941-8. [Medline].

  9. Brown BI, Brown DH. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am J Hum Genet. Mar 1989;44(3):378-81. [Medline].

  10. Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. Sep 28 2004;63(6):1053-8. [Medline].

  11. Burrow TA, Hopkin RJ, Bove KE, et al. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A. Apr 15 2006;140(8):878-82. [Medline].

  12. Giuffre B, Parinii R, Rizzuti T, et al. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis. 2004;27(5):609-19. [Medline].

  13. Lossos A, Meiner Z, Barash V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. Dec 1998;44(6):867-72. [Medline].

  14. McConkie-Rosell A, Wilson C, Piccoli DA, et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis. 1996;19(1):51-8. [Medline].

  15. Nambu M, Kawabe K, Fukuda T, et al. A neonatal form of glycogen storage disease type IV. Neurology. Aug 12 2003;61(3):392-4. [Medline].

  16. Nase S, Kunze KP, Sigmund M, et al. A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy. Eur Heart J. Nov 1995;16(11):1698-704. [Medline].

  17. Selby R, Starzl TE, Yunis E, et al. Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr. 1993;152 Suppl 1:S71-6. [Medline].

  18. Servidei S, Riepe RE, Langston C, et al. Severe cardiopathy in branching enzyme deficiency. J Pediatr. Jul 1987;111(1):51-6. [Medline].

  19. Shen J, Liu HM, McConkie-Rosell A, Chen YT. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. Sep 1999;19(9):837-9. [Medline].

  20. Sokal EM, Van Hoof F, Alberti D, et al. Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr. Mar 1992;151(3):200-3. [Medline].

  21. Starzl TE, Demetris AJ, Trucco M, et al. Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med. Mar 18 1993;328(11):745-9. [Medline].

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Further Reading

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Keywords

glycogen-storage disease type IV, GSD IV, Andersen disease, amylopectinosis, adult polyglucosan body disease, brancher deficiency, familial cirrhosis with deposition of abnormal glycogen, GBE1 deficiency, glycogen-branching enzyme deficiency, type 4 glycogenosis, APBD, glycogen storage disease type IV, hepatosplenomegaly, liver cirrhosis, portal hypertension, esophageal varices, encephalopathy, splenomegaly, ascites, renal dysfunction, pruritus, fatigue, anorexia, peripheral edema, epistaxis, diaphoresis, dyspnea, orthopnea, edema, petechiae, ecchymoses, amyotrophic lateral sclerosis, treatment, diagnosis, end-stage liver failure, liver transplantation

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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.

Medical Editor

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

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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.

 
 
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