Medscape is available in 5 Language Editions – Choose your Edition here.


Glycogen-Storage Disease Type 0 Follow-up

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Luis O Rohena, MD  more...
Updated: Feb 14, 2014

Further Outpatient Care

Conduct a follow-up evaluation to assess for adequate physical growth, developmental maturation, and avoidance of hypoglycemic episodes, with adjustments in dietary management as needed.



Avoid prolonged fasting of greater than 5-7 hours. Some patients cannot tolerate even a shorter fasting period of less than 5 hours. During an acute illness with decreased oral intake, maintain normoglycemia with intravenous infusion of glucose-containing solution.



The prognosis is good for normal growth and intellectual development when the condition is diagnosed early and when episodes of hypoglycemia are prevented with good dietary management.


Patient Education

Educate the patient and parents about proper diet management and avoidance of fasting. Educate the parents and primary physician about the administration of intravenous glucose solutions during acute illness with decreased oral intake. Dietary teaching is suggested for children as soon as they are developmentally ready.

Contributor Information and Disclosures

Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

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

Disclosure: Received salary from Genzyme Corporation for management position.

  1. Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. The variable clinical phenotype of liver glycogen synthase deficiency. J Pediatr Endocrinol Metab. Dec 2007. 20:1339-1342. [Medline].

  2. Orho M, Bosshard NU, Buist NR, et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1. 102(3):507-15. [Medline].

  3. Soggia AP, Correa-Giannella ML, Fortes MA, Luna AM, Pereira MA. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Med Genet. 2010 Jan 5. 11:3. [Medline]. [Full Text].

  4. Aynsley-Green A, Williamson DH, Gitzelmann R. Asymptomatic hepatic glycogen-synthetase deficiency. Lancet. 1978 Jan 21. 1(8056):147-8. [Medline].

  5. Aynsley-Green A, Williamson DH, Gitzelmann R. The dietary treatment of hepatic glycogen synthetase deficiency. Helv Paediatr Acta. 1977 Jun. 32(1):71-5. [Medline].

  6. Aynsley-Green A, Williamson DH, Gitzelmann R, et al. Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. Arch Dis Child. 1977 Jul. 52(7):573-9. [Medline].

  7. Bachrach BE, Weinstein DA, Orho-Melander M, et al. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. J Pediatr. 2002 Jun. 140(6):781-3. [Medline].

  8. Blumel P, Mullis PE. Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies. J Pediatr Endocrinol Metab. 2001 Sep-Oct. 14(8):1151-5. [Medline].

  9. Byrne BM, Gillmer MD, Turner RC, et al. Glucose homeostasis in adulthood and in pregnancy in a patient with hepatic glycogen synthetase deficiency. Br J Obstet Gynaecol. 1995 Nov. 102(11):931-3. [Medline].

  10. Chen YT, Burchell A. Glycogen storage diseases. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw Hill; 1995. 935-65.

  11. Gitzelmann R, Spycher MA, Feil G, et al. Liver glycogen synthase deficiency: a rarely diagnosed entity. Eur J Pediatr. 1996 Jul. 155(7):561-7. [Medline].

  12. Laberge AM, Mitchell GA, van de Werve G. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am J Med Genet A. 2003. 120(1):19-22. [Medline].

  13. Laberge AM, Mitchell GA, van de Werve G, Lambert M. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am J Med Genet A. 2003 Jul 1. 120(1):19-22. [Medline].

  14. Lewis GM, Spencer-Peet J, Stewart KM. Infantile hypoglycaemia due to inherited deficiency of glycogen synthetase in liver. Arch Dis Child. 1963. 38:40-8.

  15. Rutledge SL, Atchison J, Bosshard NU, Steinmann B. Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. Pediatrics. 2001 Aug. 108(2):495-7. [Medline].

  16. Weinstein DA, Corneia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab. 2006. 87(4):284-288. [Medline].

All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.