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

Glycogen-Storage Disease Type 0: Follow-up

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

Updated: Aug 4, 2008

Follow-up

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.

Deterrence/Prevention

  • 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.

Prognosis

  • 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.

Miscellaneous

Medicolegal Pitfalls

  • Failure to provide adequate calories and protein for normal growth
  • Failure to educate the patient and family about the importance of dietary intervention to avoid episodes of fasting hypoglycemia and to prevent long-term growth delay and neurologic sequelae
  • Failure to educate the parents about the necessity of adequate oral intake during an acute illness or the administration of intravenous glucose infusion within a few hours of inadequate oral intake
  • Failure to instruct the primary pediatrician about the need for administration of intravenous glucose solution during the early hours of an acute illness with poor oral intake
  • Failure to evaluate siblings for mild manifestations of this disorder
 


More on Glycogen-Storage Disease Type 0

Overview: Glycogen-Storage Disease Type 0
Differential Diagnoses & Workup: Glycogen-Storage Disease Type 0
Treatment & Medication: Glycogen-Storage Disease Type 0
Follow-up: Glycogen-Storage Disease Type 0
References
[ CLOSE WINDOW ]

References

  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. Aug 1 1998;102(3):507-15. [Medline].

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

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

  5. 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. Jul 1977;52(7):573-9. [Medline].

  6. 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. Jun 2002;140(6):781-3. [Medline].

  7. 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. Sep-Oct 2001;14(8):1151-5. [Medline].

  8. 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. Nov 1995;102(11):931-3. [Medline].

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

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

  11. 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].

  12. 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. Jul 1 2003;120(1):19-22. [Medline].

  13. 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.

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

  15. 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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

glycogen-storage disease type 0, GSD-0, glycogen synthetase deficiency, aglycogenosis, hypoglycemia with deficiency of liver glycogen synthetase, liver glycogen synthetase deficiency, GYS2, hyperglycemia, hyperlacticacidemia, growth delay, osteopenia, hepatomegaly, lactic acidosis, hyperketosis, hypoketosis, cirrhosis, metabolic acidosis

[ CLOSE WINDOW ]

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: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

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

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.