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

Glycogen-Storage Disease Type IV: Follow-up

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

Follow-up

Further Outpatient Care

  • Perform follow-up in patients with glycogen-storage disease type IV (GSD IV) to evaluate the progression of liver disease, to determine the need for additional medical and dietary management, and to assess the urgency for surgical intervention. Periodic ultrasonography of the liver to monitor the development of hepatocellular adenoma is suggested.
  • Perform periodic follow-up to evaluate progressive organ involvement and failure in patients with predominant nerve, muscle, and cardiac involvement.

Deterrence/Prevention

  • The parents of an affected child should be provided genetic counseling regarding the autosomal recessive inheritance pattern and the 1:4 risk (25%) of an affected offspring with each pregnancy.
  • The parents of an affected child should be informed that analysis of the GBE1 gene by sequencing and other molecular techniques may identify the mutations in their child. Subsequently, if the mutations of an affected child are identified, then prenatal diagnostic testing may be offered for future pregnancies.
  • The parents of an affected child should be informed that if the mutations in an affected child are identified, genetic testing may be offered to close family members to determine carrier status for the GBE1 mutation.

Complications

The following complications may result from the disease process and medical or surgical interventions:

  • Patients with liver cirrhosis who develop portal hypertension may develop complications of portosystemic blood shunting, including esophageal varices, encephalopathy splenomegaly, ascites, and renal dysfunction
  • Patients with progressive liver disease may develop complications related to declining hepatic functional capacity.
  • Patients with cardiomyopathy may die from progressive heart failure despite medical and surgical intervention.
  • Patients with nonprogressive liver disease have an increased risk for hepatocellular adenoma and hepatocellular carcinoma.
  • Immediate complications of liver transplantation include postoperative complications and organ rejection.
  • Long-term complications after liver transplantation include the progression of disease in other organs.

Prognosis

  • The prognosis is poor in patients with the perinatal-onset and classic forms who do not undergo liver transplantation. Long-term prognosis for others, including patients with classic glycogen-storage disease type IV after transplantation, depends on the extent, severity, and progression of this multisystem disorder.

Patient Education

  • Educate patients and parents about proper diet management to support liver dysfunction.
  • Educate patients and parents about proper evaluation and long-term medical management of complications such as cirrhosis and portal hypertension, heart failure, and neuromuscular dysfunction.

Miscellaneous

Medicolegal Pitfalls

  • Failure to adequately monitor and manage progressive organ dysfunction and failure
  • Failure to adequately discuss the potential benefits and complications of liver transplantation with patients who have classic glycogen-storage disease type IV (GSD IV)
  • Failure to discuss the availability of prenatal diagnosis to a couple with a previously affected child
  • Failure to consider the diagnosis of glycogen-storage disease type IV in a fetus with cervical cystic hygroma and normal chromosome analysis.6
 


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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