Glycogen storage diseases Flashcards
Which enzyme is deficient in Von Gierke Disease type 1?
Glucose 6 phosphatase
What are the symptoms in the liver in Von kierke disease
Leads to severe fasting hypoglycaemia as the liver is not producing any glucose to be released into the blood, this leads to increased glycogen in liver, and hepatomegaly
What are the symptoms in the kidney in Von kierke disease
Increased glycogen accumulation in the kidney, which leads to renomegaly
What is the relation between lactate levels in Von Gierke disease
They increase
Liver delivers glucose to muscle
Muscle delivers lactate to liver
Lactate is converted into pyruvate and then glucose inside the liver, but theres no glucose 6 phosphatase hence no glucose, lactate accumulates
What are the symptoms of severe hypoglycaemia between meals
Lethargy, siezures, lactic acidosis
What are the levels of triglycerides and uric acid levels in Von Gierke disease
Triglycerides levels increase, and uric acid levels increase which leads to gout
What is the treatment for Von Gierke disease?
Frequent oral glucose cornstarch
What is avoided in treatment in Von Gierke diseases
Sucrose, lactose, fructose, galactose
They cannot be converted into glucose via gluconeogensis, they accumulate as glucose 6 phosphate
What is impaired in Vin gierke disease?
Gluconeogensis, and glycogenolysis
What stage does von gierke start?
Infancy
Which enzyme is deficient in Pompe disease type 2
Acid maltase
Lysosomal alpha 1,4 glucosidase with alpha 1,6 glucosidase activity
What are the findings in patients with Pompe disease
Cardiomegaly, hypertophic cardiomegaly
Hypotonia, excerise intolerance
Enlarged tongue
Is there any metabolic abnormality in Pompe disease
No, as the liver is still liberating glucose into the blood between meals due to adequate glucose 6 phosphatase
Death occurs at what stage in pompe disease
Infancy due to heart abnormalities
In cori disease, which enzyme is deficient
Debranching enzyme
Alpha 1,6 glucosidase
Whjch diease is the milder form of von gierke type 1
Cori disease
What are the differences between cori diease and von gierke disease
Milder hypoglycaemia but gluconeogensis still in intact
Normal lactate levels because cori cycle still intact
Theres muscle involvement
Theres accumulation of what in cori disease
Limit dextrin like structures in cytosol
What is intact in cori disease
Gluconeogensis
What is the classic presentation of cori disease patient
Infant or child with hypoglycaemia/ hepatomegaly
Hypotonia weakness
Possible cardiomyopathy with hypertrophy
Which enzyme is deficient in Mcardle disease type 5
Muscle glycogen phosphorylase
Myophosphorylase
What is the relation of glycogen in mcardle disease
Glycogen increases in muscle but muscle cannot break it down- painful muscle cramps
What are the symptoms of mcardle disease
Red urine after strenous exercise
Arrythmia from electrolyte abnormalities
What are the blood glucose levels in mcardle disease
Typically unaffected
