von Gierke disease

Radiopaedia • CC-by-nc-sa 3.0 • de

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.

Epidemiology

It occurs approximately one in every 100,000 live births.

Clinical presentation

It is usually diagnosed in infants. Clinical features include :

  • 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.

Pathology

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) .

Microscopic appearance

Gross liver architecture is maintained, but hepatocytes contain excessive amounts of glycogen and fat.

Radiographic features

Ultrasound
  • hepatomegaly (79%)
  • increased liver echogenicity
  • enlarged kidneys
  • splenomegaly
  • hepatopetal flow in portal, splenic, and superior mesenteric veins
CT

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

Treatment and prognosis

Medical treatment

Young infants require continuous nasogastric tube feed to sustain blood sugar levels. They require 6-8 mg of glucose/kg/min . Older children are able to maintain good outcomes with raw cornstarch meals, every 4-6 hours .

Surgical treatment

Liver transplantation has been performed with good outcomes .

Complications

Multiple systems are affected:

See also