TBL Prep

Question 1

What is another name for Von Gierke’s Disease?

Answer 1

Type I Glycogen Storage Disease

Question 2

What causes von Gierke’s?

Answer 2

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

Question 3

What happens in von Gierke’s?

Answer 3

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.

Question 4

What are the symptoms of von Gierke’s?

Answer 4

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

Question 5

What are some tests for von Gierke’s?

Answer 5

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)

Question 6

What are the treatments for von Gierke’s?

Answer 6

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

Question 7

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

Answer 7

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

Question 8

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

Answer 8

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

Question 9

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

Answer 9

muscle pain, weakness, fainting

blood work, biopsy

Question 10

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

Answer 10

uncooked starch

frequent meals

Question 11

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

Answer 11

This messes w/ the glycogen synthase in the liver.

Question 12

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

Answer 12

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.

Question 13

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

Answer 13

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!!

Question 14

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

Answer 14

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)

Question 15

What are the symptoms of Pomp disease?

Answer 15

heart defects, hepatomegaly, respiratory problems…

Question 16

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

Answer 16

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)

Question 17

What are the symptoms of Cori disease?

Answer 17

hepatomegaly, hyperlipidemia, hyperglycemia

Question 18

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

Answer 18

by examining glycogen chain length

Question 19

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

Answer 19

liver & muscle biopsy

high protein & carb diet recommended

Question 20

What is Andersen disease? How do we remember this?

Answer 20

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!!

Question 21

What does Andersen disease cause?

Answer 21

liver damage!!

Question 22

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

Answer 22

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!!!

Question 23

What are the symptoms of McArdle’s disease?

Answer 23

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.

Question 24

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

Answer 24

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

Question 25

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

Answer 25

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

Question 26

What are the symptoms of Hers disease?

Answer 26

large liver, growth retardation

hypoglycemia & lactic acidosis when fasting…

Question 27

What causes Tarui disease? How do we remember this?

Answer 27

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

Question 28

What are the symptoms of Tarui disease?

Answer 28

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