Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel.
It occurs approximately one in every 100,000 live births 2,5.
It is usually diagnosed in infants. Clinical features include 1:
- fasting hypoglycemia (e.g. presenting as seizures)
- acidosis and ketosis (e.g. presenting as hyperventilation and vomiting)
- delayed growth and sexual development
- increased susceptibility to infections
- bleeding diatheses (e.g. presenting as epistaxis)
Diagnosis is made by the failure of blood glucose to rise with glucagon administration.
GSD-I is an autosomal recessive metabolic disorder. The majority of GSD-I cases are caused by a lack of the enzyme glucose-6-phosphatase. This results in failure of the final step of gluconeogenesis and glycogenolysis (i.e. hydrolysis of glucose-6-phosphate to glucose and phosphate) 2.
Gross liver architecture is maintained, but hepatocytes contain excessive amounts of glycogen and fat.
- hepatomegaly (79%)
- increased liver echogenicity
- enlarged kidneys
- hepatopetal flow in portal, splenic, and superior mesenteric veins 3
Decreased attenuation and increased size of the liver due to the deposition of fat.
Treatment and prognosis
Young infants require continuous nasogastric tube feed to sustain blood sugar levels. They require 6-8 mg of glucose/kg/min 5. Older children are able to maintain good outcomes with raw cornstarch meals, every 4-6 hours 5.
Liver transplantation has been performed with good outcomes 4.
Multiple systems are affected 2:
- development of gout
- formation of hepatic adenomas
- platelet dysfunction
- pulmonary hypertension
- renal failure
- 1. Sokal JE, Lowe CU, Sarcione EJ. Liver glycogen disease (von Gierke's disease). (1962) Archives of internal medicine. 109: 612-24. Pubmed
- 2. Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY. The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. (2002) The Journal of biological chemistry. 277 (7): 5047-53. doi:10.1074/jbc.M110486200 - Pubmed
- 3. Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E. Sonographic findings in type I glycogen storage disease. (2001) Journal of clinical ultrasound : JCU. 29 (8): 456-61. Pubmed
- 4. Ou HY, Huang TL, Chen TY, Tsang LLC, Cheng YF. Abdominal Radiological Findings in Pediatric Glycogen Storage Disease Pre and Post Liver Transplantation. (2009) Chinese Journal Radiology. 34: 13-20
- 5. Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Glucose-6-phosphatase deficiency. (2011) Orphanet journal of rare diseases. 6: 27. doi:10.1186/1750-1172-6-27 - Pubmed