Type I glycogen storage disease
Von Gierke's disease is a glycogen storage disease Type 1 illness. The mode of inheritance is autosomal recessive.
There is deficiency of glucose-6-phosphatase (as a result of gene G6Pase mutation), and therefore glucose-6-phosphate cannot be converted into glucose. Thus production of glucose from glycogenolysis and gluconeogenesis is not possible.
Von Gierke's disease is a cause of fasting hypoglycaemia.
There may be hyperlipidaemia; this is made from the excess acetyl CoA formed as glycogen is broken down into pyruvate.
If treated with regular protein-rich meals development may be normal.
Reference
- Parikh N. Glycogen Storage Disease Type I. Treasure Island (FL): StatPearls Publishing. 2025 Jan.
Related pages
Create an account to add page annotations
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.