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What is another name for Von Gierke's Disease?

Type I Glycogen Storage Disease


What causes von Gierke's?

It is a genetic disease, inherited in an autosomal recessive pattern. There is a deficiency of Glucose-6-Phosphatase. This inhibits freeing


What happens in von Gierke's?

The deficiency in Glucose-6-phosphatase inhibits freeing glucose from glycogen & inhibits gluconeogenesis.
Thus, hypoglycemia results.
Lactic acidosis & hyperlipidemia also result.
You might see excessive storage of glycogen in the liver & kidneys.


What are the symptoms of von Gierke's?

Symptoms often show up in kids...
constant hunger
easy bruising & nosebleeds
thin chest & limbs & swollen belly...


What are some tests for von Gierke's?

biopsy of the liver & kidney
blood sugar test (would be low)
Genetic testing
lactic acid blood test (would be high)
triglyceride test (would be high--if you had it)
uric acid blood test (would be high)


What are the treatments for von Gierke's?

Throughout the day: continuous feedings of cornstarch & carbs...& avoid eating fruits or milk
At night: feeding tube in the nose w/ nutrients...
Allopurinol: to lower uric acid
Meds for kidney disease & high lipids


What are some possible complications of von Gierke's & what is the clinical outcome?

Possible Complications:
Kidney Failure
Liver Tumors
**can survive into adulthood if treated properly


What is the function of glycogen synthase? What are 2 defects that can compromise this enzyme?

It takes short glycogen polymers & forms long glycogen polymers.
2 possible defects:
glycogen synthase-2 gene
glycogen synthase 1-gene


What happens if you have a deficiency of glycogen synthase? What are some ways of seeing if you have this deficiency?

muscle pain, weakness, fainting
blood work, biopsy


What is a good treatment for a deficiency of glycogen synthase?

uncooked starch
frequent meals


What's the deal w/ glycogen synthase 2-gene issues?

This messes w/ the glycogen synthase in the liver.


What's the deal w/ glycogen synthase 1-gene issues?

This messes w/ the glycogen synthase in the heart & skeletal muscle.
The lack of glycogen stored in the heart puts patients at risk for cardiac arrest.


With von Gierke's disease...what is there a deficiency in? Which step does this mess with? What is the memory device?

deficiency in glucose-6-phosphatase
This messes with the last step of gluconeogenesis.
von Gierke-->that jerk!! I was almost at glucose & you stopped me!!


What's the memory device for Pomp disease? What deficiency causes this?

Poor Pompeii-->it exploded with glycogen in little lysosomes!! Bubbles of lava glycogen rolling down the hill...
It causes a total excess of glycogen!!
It is lacking a lysosomal enzyme that cleaves alpha 14 & alpha 16 linkages of glycogen so that they can be transformed into glucose...(acid maltase)


What are the symptoms of Pomp disease?

heart defects, hepatomegaly, respiratory problems...


What deficiency causes Cori Disease? How do we remember this?

amylo1,6 glucosidase...it can't break these type of bonds-->thus it has huge stores of short chain glycogen...
A sweet girl named Cori experienced the volcanic disaster in Pompeii on her sweet 16. Luckily, she escaped! (this is a less severe form)


What are the symptoms of Cori disease?

hepatomegaly, hyperlipidemia, hyperglycemia


How do you tell von Gierke's from Cori disease?

by examining glycogen chain length


What tests help to determine if you have Cori disease? What diet is recommended?

liver & muscle biopsy
high protein & carb diet recommended


What is Andersen disease? How do we remember this?

This is a disease caused by a lack of the glycogen branching enzyme. Thus, you get super long & creepy glycogen chains.
We can remember this b/c of Sara's creepy tall teacher, named Mr. Andersen.
**Note: this doesn't necessarily mean that too much glycogen is stored-->just long chains!!


What does Andersen disease cause?

liver damage!!


What causes McArdle's disease? How can we remember this?

It is caused by a lack of myophosphorylase-->this prevents the breakdown of glycogen. It makes it really hard to exercise.
McArdle can't jump over the hurdles!!!


What are the symptoms of McArdle's disease?

burgundy-colored urine, muscle cramps * problems, myoglobinuria-->renal failure
**patients get a second wind after exercising for a while as their body starts to use different sources of energy--distinguishing feature
**Note: this usu presents in 20-30s.


What adjustments are recommended for patients w/ McArdle's disease?

vitamin B6 in diet; sucrose before exercising, increase in the amount of protein in the diet


What's the problem with Hers disease? How do we remember this?

dysfunction in liver glycogen phosphorylase-->causes a buildup of glycogen in the liver-->liver failure
Her Liver!!


What are the symptoms of Hers disease?

large liver, growth retardation
hypoglycemia & lactic acidosis when fasting...


What causes Tarui disease? How do we remember this?

PFK deficiency. This is the only disease that deals directly w/ glycolysis.
Because Tarui is just effing tired!!


What are the symptoms of Tarui disease?

weakness, myoglobin in the urine, hemolytic anemia (b/c it messes w/ glycolysis)
**similar in some ways w/ McArdle's disease.