Von Gierke disease

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 Von Gierke disease is also known as Type I Glycogen Storage Disease (GSD I)[1]. It is caused by a glucose-6-phosphatase deficiency, and so leads to the body being unable to break down glycogen into glucose during glycogenolysis in the liver[2]. This leads to hypoglycaemia and hepatomegaly. Von Gierke disease is inherited.


References

  1. https://medlineplus.gov/ency/article/000338.htm [cited 05/11/18]
  2. BGM1002 Lecture 28