Glycogen Storage Diseases Flashcards
What is the first step of forming glycogen?
Glucose-6-Phosphate -> Glucose-1-Phosphate
What does UDP-Glucose Pyrophosphorylase do?
Converts Glucose-1-Phosphate to UDP-Glucose
Glucose-1-Phosphate is converted to UDP-Glucose via which enzyme?
UDP-Glucose Pyrophosphorylase
UDP-Glucose is converted to Glycogen by which enzyme?
Glycogen Synthase
What is the first step of Glycogenolysis?
Glycogen -> Glucose-1-Phosphate
Which enzyme converts Glycogen to Glucose-1-Phosphate?
Glycogen Phosphorylase
What is the rate limiting enzyme in glycogen synthesis?
Glycogen Synthase
What is the rate limiting enzyme in glycogenlysis?
Glycogen Phosphorylase
What activates Glycogen Synthase?
Insulin
What activates Glycogen Phosphorylase?
1) Glucagon
2) Epinephrine
3) cAMP
Glycogen Synthase adds glycogen in which bonds?
Alpha-1,4 linkages
What do branching enzymes do?
Add glycogen branches in alpha-1,6 linkages
Which comes first: Glycogen Phosphorylase or De-branching enzymes?
Glycogen Phosphorylase
Von Gierke Disease is characterized by which enzyme deficiency?
Glucose-6-Phosphatase
What accumulates if we don’t have Glucose-6-Phosphatase (Von Gierke Disease)?
Glucose-6-Phosphate
What are the clinical findings in Von Gierk’s Disease?
1) Hepatomegaly
2) Hypoglycemia
3) Hyperlipidemia
4) Hyperuricemia
Which enzyme is deficient in Cori Disease?
De-branching enzyme (Alpha-1,6-Glucosidase)
Cori disease has the same findings as:
Von Gierke disease
In Cori disease, glycogen has an:
Abnormal structure
What accumulates in Cori disease?
Abnormal glycogen
Where is Glycogen Phosphorylase usually found?
1) Muscles
2) Liver
Which disease occurs when Glycogen Phosphorylase is absent in the muscles?
McArdle’s Disease
Which disease occurs when Glycogen Phosphorylase is absent in the liver?
Her’s disease
What are the clinical findings in McArdle’s Disease?
1) Muscle cramps on exertion
2) Hypoglycemia on exertion
3) Myoglobinurua
What are the clinical findings in Her’s Disease?
1) Fasting hypoglycemia!
2) Hepatomegaly
Which enzyme is deficient in Anderson’s Disease?
Branching enzyme
What are the clinical findings in Anderson’s disease?
Cirrhosis (FATAL!!)
What happens if a LYSOSOME lacks a de-branching enzyme?
Pompe Disease
Pompe Disease is when ___ lack a de-branching enzyme.
Lysosomes
What are the clinical findings in Pompe disease?
Cardiomegaly
(Pompe affects the Pump)
