type I glycogen storage disease
Von Gierke's disease is a glycogen storage disease. 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.
Last reviewed 08/2021