Glycogen-Storage Disease Type IV: Multimedia

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].

Further Reading

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

Contributor Information and Disclosures

Author

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