Glycogen storage disease type I

Last revised by Daniel J Bell on 7 Jul 2022

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:

  • hepatomegaly
  • 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
  • splenomegaly
  • hepatopetal flow in portal, splenic, and superior mesenteric veins 3

Decreased attenuation and increased size of the liver due to the deposition of fat.

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:

Glycogen storage disease type I was described in the literature in 1929 by the German pathologist Edgar von Gierke (1877-1945) 6,7. Although in common with many other conditions, it had previously been described by several others (Stigler law of eponymy), von Gierke was the first to tie together all the different strands and establish the pattern of abnormalities as glycogen storage disease 6.

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Cases and figures

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