Type IV Glycogen Storage Disease Differential Diagnoses
- Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD more...
Differential Diagnoses
- Glucagonoma
- Glucose Intolerance
- Glucose-6-Phosphatase Deficiency
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Glycogen Storage Disease, Type Ia
- Glycogen Storage Disease, Type Ib
- Glycogen Storage Disease, Type II
- Glycogen Storage Disease, Type III
- Glycogen Storage Disease, Type V
- Glycogen Storage Disease, Type VI
- Glycogen Storage Disease, Type VII
- Hepatic Carcinoma, Primary
- Hypoglycemia
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis. May 20 2011;6:27. [Medline]. [Full Text].
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].
Janecke AR, Dertinger S, Ketelsen UP, et al. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. J Pediatr. Nov 2004;145(5):705-9. [Medline].
Fernandez C, Halbert C, De Paula AM, et al. Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. Muscle Nerve. Oct 7 2009;[Medline].
Nolte KW, Janecke AR, Vorgerd M, et al. 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].
Lamperti C, Salani S, Lucchiari S, et al. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Inherit Metab Dis. Apr 8 2009;[Medline].
Sansone V, Griggs RC, Meola G. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol. Sep 1997;42(3):305-12. [Medline].
Shen J, Liu HM, McConkie-Rosell A. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. Sep 1999;19(9):837-9. [Medline].
Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn. Oct 2006;26(10):951-5. [Medline].
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].
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].
Ewert R, Gulijew A, Wensel R. [Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]. Z Kardiol. Oct 1999;88(10):850-6. [Medline].
Matern D, Starzl TE, Arnaout W. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr. Dec 1999;158 Suppl 2:S43-8. [Medline].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. Feb 2000;18(1):151-65. [Medline].
Aminoff MJ. Electromyography in Clinical Practice. 3rd ed. New York, NY: Churchill Livingstone; 1998.
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. Jan 2000;105(1):e10. [Medline].
Bao Y, Kishnani P, Wu JY. 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].
Chan YJ, Lin SP, Chen BF. Glycogen storage disease type IV: a case report. Chung Hua I Hsueh Tsa Chih (Taipei). Oct 1999;62(10):743-7. [Medline].
Chen Y. Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:1521-51.
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].
Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Dec 1993;93(12):1423-30. [Medline].
Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. Aug 1 1998;102(3):507-15. [Medline].
Selby R, Starzl TE, Yunis E. Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr. 1993;152 Suppl 1:S71-6. [Medline].
Selby R, Starzl TE, Yunis E. Liver transplantation for type IV glycogen storage disease. N Engl J Med. Jan 3 1991;324(1):39-42. [Medline].
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].
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].
Takahashi T, Tandai S, Toki T, et al. KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome. Pediatr Int. Apr 2005;47(2):220-3. [Medline].
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].

