Biochemistry case study.
Budget: $10 – $30 USD
To earn full credit, you will need to describe why your chosen answer is correct while also discussing why the other answers are incorrect. Your presentation will be graded on your logic and accuracy as well as on the clarity and organization of the overall assignment. AMA format
1. A 16-year-old female is recently diagnosed with a deficiency of muscle glycogen phosphorylase. She and her family are concerned and ask the following questions. Based on what you know about skeletal muscle glycogenolysis and muscle metabolism, please respond to each question with a thoughtful answer that describes the metabolism in these various scenarios in language that your patient will understand:
1. I’m not sure I understand the issue. Can you explain how muscle glycogen is used normally during exercise?
2. I really like to take long walks; will I still be able to do this with my friends?
3. As a result of this deficiency, will I need to get up at night to eat to maintain my blood glucose levels? 4. Do I need to worry about producing excessive lactate during intense anaerobic exercise?
2. A previously healthy 2-month-old female presents with jittery spells several hours after breastfeeding. Her mother reports she has not given the baby anything to eat other than breastmilk since birth. The baby has only recently been sleeping for more than 2 hours between feedings and that’s when the mother reports these symptoms started. Laboratory results are consistent with hypoglycemia (low blood glucose) but are otherwise unremarkable. Epinephrine is administered and there is no increase in blood glucose but there is an increase in blood lactate (Hint: think of what pathways would be activated by this hormone).
Physical exam reveals a liver edge 4 cm below the right costal margin. Percussion of the right chest and abdomen confirms hepatomegaly (enlarged liver).
Blood glucose levels increase after breastfeeding but she cannot maintain blood glucose levels within a normal range during fasting.
Based on the information above, which of the following is the most likely diagnosis of this patient? a) Hereditary fructose intolerance
b) Galactosemia
c) Glycogen storage disease (inability to use glycogen)
d) Glucose 6-phosphate dehydrogenase deficiency
1. A 16-year-old female is recently diagnosed with a deficiency of muscle glycogen phosphorylase. She and her family are concerned and ask the following questions. Based on what you know about skeletal muscle glycogenolysis and muscle metabolism, please respond to each question with a thoughtful answer that describes the metabolism in these various scenarios in language that your patient will understand:
1. I’m not sure I understand the issue. Can you explain how muscle glycogen is used normally during exercise?
2. I really like to take long walks; will I still be able to do this with my friends?
3. As a result of this deficiency, will I need to get up at night to eat to maintain my blood glucose levels? 4. Do I need to worry about producing excessive lactate during intense anaerobic exercise?
2. A previously healthy 2-month-old female presents with jittery spells several hours after breastfeeding. Her mother reports she has not given the baby anything to eat other than breastmilk since birth. The baby has only recently been sleeping for more than 2 hours between feedings and that’s when the mother reports these symptoms started. Laboratory results are consistent with hypoglycemia (low blood glucose) but are otherwise unremarkable. Epinephrine is administered and there is no increase in blood glucose but there is an increase in blood lactate (Hint: think of what pathways would be activated by this hormone).
Physical exam reveals a liver edge 4 cm below the right costal margin. Percussion of the right chest and abdomen confirms hepatomegaly (enlarged liver).
Blood glucose levels increase after breastfeeding but she cannot maintain blood glucose levels within a normal range during fasting.
Based on the information above, which of the following is the most likely diagnosis of this patient? a) Hereditary fructose intolerance
b) Galactosemia
c) Glycogen storage disease (inability to use glycogen)
d) Glucose 6-phosphate dehydrogenase deficiency