Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) Differential Diagnoses

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link]. [Full Text].

4. 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. [QxMD MEDLINE Link].

5. 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. [QxMD MEDLINE Link].

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

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

8. 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. [QxMD MEDLINE Link].

9. 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. [QxMD MEDLINE Link].

10. 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. [QxMD MEDLINE Link].

11. 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. [QxMD MEDLINE Link].

12. 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.

13. 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. [QxMD MEDLINE Link].

14. 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. [QxMD MEDLINE Link].

15. 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.

16. 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. [QxMD MEDLINE Link].

Reem Saadeh-Haddad, MD Associate Professor, Clinical Geneticist, Department of Pediatrics and Medicine, MedStar Georgetown University Hospital; Clinical Geneticist, Department of Oncology, Sibley Memorial Hospital; Module Director-Pediatric and Clinical Genetics, Georgetown University School of Medicine

Reem Saadeh-Haddad, MD is a member of the following medical societies: National Arab American Medical Association

Disclosure: Nothing to disclose.

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.

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

Luis O Rohena, MD, PhD, FAAP, FACMG 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.

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.

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

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article