L10 glycogen diseases Flashcards
Type 1
Von’s
- G-6-Phosphatase
- accumulation of glycogen
- inability to respond to raised blood glucose in response to glucagon
- hypoglycaemia
- treatment: liver transplant/surgical transposition of the portal vein
which disease is treated with a liver transplant or surgical transposition of the portal vein?
type 1
Von’s
G-6-Phosphatase
Type 2
Pompe’s
alpha1,4-glucosidase
- usually degrade glycogen in lysosomes
- results in glycogen build up in lysosomes - disrupts their function and can also cause them to rupture damaging muscle tissue.
Treatment: Add A1,4G by enzyme replacement therapy (ERT)
Type 3
Cori’s
debranching enzyme
- accumulation of glycogen with short outer chains/can’t degrade properly
- muscle weakness and liver problems/hypoglycemia
treatment: high protein diet
Type 4
anderson’s
branching enzyme
- long chains of glycogen - insoluble
- reduced ability to store glucose as glycogen
- liver dysfunction due to an immune response
which glycogen disease results in liver dysfunction due to an immune response?
anderson’s
type 4
branching enzyme
Type 5
McArdle's Glycogen Phosphorylase (muscle) - can't remove glucose from glycogen - lack go glucose, limits ATP production - affected in muscle but not liver - painful muscle cramps but not fatal - harmless if strenuous exercise - absence of lactate in the blood
which glycogen disease is identifiable by lack of lactate in the blood?
Mcardles
Type 5
Glycogen Phophorylase (muscle)
Type 6
Her's Glycogen Phosphorylase (liver) - enlarged liver - hypoglycaemia - ketosis (non functioning TCA) - retarded growth
How would you treat hypoglycaemia?
drug-induced inhibition of glucose uptake by liver/
intragastic feeding
Type 7
Tarui’s
PFK (F6P -> F1,6BP)
- accumulation of F6P/G6P
- increased activity of glycogen synthase and UDP-glucose pyrophosphorylase
- build up of glycogen in the muscle (limits ATP production)
Type 8
X-linked
- due to defective phosphorylase kinase
- cannot convert phosphorylase b (inactive) to phosphorylase a (active)
- glycogen can’t be converted to glucose - limiting ATP production
Type 9
phosphorylase kinase
- resulting from mutations in one of the genes that encodes for the enzyme
Type 0
Liver glycogen synthase
- can’t build glycogen (not enough)
- only disease that leads to too little glycogen instead of too much
- asymptomatic but possible hypoglycaemia
which glycogen disease produces too little glycogen instead of too much?
Type 0
