BCH210H1 Lecture Notes - Lecture 39: Glycogen Storage Disease, Creatine Kinase, Glycogen Storage Disease Type V

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BCH210 Lecture 34 Case studies
- Damage that happens to skeletal muscles due to lack of oxygen
- Damage leads to leakage of cellular components into the blood and urine
- Can be detected by myoglobinuria
o If cells are damaged, myoglobin is released and heme group is metabolized
o Change in urine color is seen due to heme metabolism and release from
- Increased serum creatine kinase can also be detected and is used as a marker for heart
o Blood test
o Heart has muscle cells which contain a specific type of creatine kinase
o High levels of creatine kinase in the blood stream indicate that there is muscle
damage (normally creatine kinase is found inside the cell)
- Can occur due to direct muscle trauma, excessive activity, temperature extremes,
ischemia (low oxygen), drugs or toxins, infection, metabolic disorders or genetically
inherited disorders
McArdle Disease
- This is a metabolic disease known as glycogen storage disease type V
o There are enzymes which are involved in synthesis and others involved in the
breakdown hence depending on which enzyme is affected youll have a different
form of this disorder
- Autosomal recessive mutations in the PYGM gene encoding for glycogen
myophosphorylase prevents glycogen breakdown in muscle cells
o Known as a glycogen storage disease but really it prevents the breakdown of
glycogen in muscle cells
- We therefore begin to rely on other sources of energy”
o Glucose from the diet
o Liver glycogen (small pool)
o Breakdown of fats
o Breakdown of proteins (last resort)
- Fatigue and muscle weakness:
o Low ATP in muscle cell dies rhabdomyolysis
Muscle cells cant use glycogen for glucose production
- Second wind phenome
o Energy burst after taking a break while exercising
o Fat breakdown + liver glucose (GNG)
- Can be treated with a diet rich in complex carbs
o Complex carbs have large structure that take longer to be broken down
o If you took simple carbs this would lead to hyperglycemia because these carbs
would be quickly broken down, but the glycogen cannot be stored in muscle cells
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