Glycogen Storage Disease Flashcards
How is type 1 von gierke’s disease caused?
Glucose-6-phosphatase absent
Outline clinical manifestations of Von gierkes disease (type 1)
- fasting hypoglycaemia
- lactic acidaemia
- increased lipogenesis leading to hyperlipidemia
- sweating, weak muscles, poor growth
- mouth ulsers, more infections
- livers enlarges, accumulation of glycogen
What is a treatment for Von gierkes disease (type 1)
Glucose drinks given frequently
Older children corn starch given
What causes pompe disease and what are clindical manifestations (type 2)
Glucosidase (acid Maltese) absent
Clinical manifestations;
- within first months of life severe muscle weakness and heart muscle
- death from heart failure by 18 months
What causes Cori disease?
Glycogen debrancher enzyme absent
(Glycogen acumulates, structure-abnormal, excessive branching)
Outline clinical manifestations of cori disease;
• problems with low blood sugars on fasting
• growth may be delayed
• some problems with muscle weakness heart may be affected
What is a treatment if cori disease?
High protein diet and prevention of prolonged periods of fasting
What is Anderson disease?
Branching enzyme absent
- abnormal structure, very little branching, hypoglycaemia absent
Why are clinical manifestations and treatment of Anderson disease?
- very severe but rare disorder
- leads to cirrhosis of the liver and heart involvement
- death before age of 2 in most children
Treatment-> liver transplantation
Describe Mcardle disease;
Muscle glycogen phosphorylase absent
Normal structure no hypoglycaemia
Outline clinical features of Mcardle disease;
- symptoms experienced during anaerobic and sustained exercise
- fatigue, pain within few mins of exercise
- muscle damage may occur leading to myoglobinuria
- increase in blood lactate absent following exercisw
