Von Gierke’s Disease Video Flashcards
What is Von Gierke’s disease?
What is the mechanism of pathology
— A defect in glucose-6-phosphotase enzyme
— G6P is not converted to glucose by glucose-6-phosphotase as it normally would be
— Not able to run gluconeogenesis and get it to leave the cell
— instead G6P is stored as glycogen
Von Gierke’s disease symptom/presentation?
Hypoglycaemia — after stimulation with epinephrine and glucagon
If there were a defect in Glucose-6-phosphatase, there wouldn’t be an increase in serum glucose levels because fructose would not be converted from glucose 6-phosphate to glucose to enter the cells, instead glycogen will build up. If glucose-6-phosphatase was functioning normally, there would be a rise in serum glucose levels.
Systems of Von Gierke’s disease
Nausea
Vomiting
Light-headedness.
Extreme fatigue
Easy bruising and nose bleeds
Build up of glycogen causes enlarged liver and kidneys
Accumulation of other metabolites, like lactates, Uris acid, fats
Children can exhibit “doll like” face with puffy cheeks with thin extremities (muscles are doing fine)
Where/who do you see Von Gierke’s disease?
— see this most likely in children because it’s a genetic issue, shows up quickly
What is Von Gierke’s disease also called?
— recessive type 1 glycogen storage disease
How can you test for Von Gierke’s?
— give the patient fructose
If there were a defect in Glucose-6-phosphatase, there wouldn’t be an increase in serum glucose levels because fructose would not be converted from glucose 6-phosphate to glucose to enter the cells, instead glycogen will build up. If glucose-6-phosphatase was functioning normally, there would be a rise in serum glucose levels.
Special treatments for Von Gierke’s ?
Special diet to maintain glucose levels and prevent hypoglycaemia
Medications may be prescribed to lower lipid levels and prevent and/or treat kidney disease.
Kidney/liver function and blood work regularly monitored
