Instructions

Case connections are short scenarios or puzzles based on the information from the current unit of study. For this assignment, you will evaluate these case connection problems and provide detailed written solutions. 

To earn full credit:

  1. You will need to describe why your chosen answer is correct while also discussing why the other answers are incorrect.
  2. References in AMA format are also required.
  3. Do not include the questions provided as part of your submission.

 

Case 1:  Upon presentation:  An 18-month-old female arrives by ambulance at the emergency department. The  paramedics report that there was no known history of any recent trauma, and no known  fever, vomiting, or other unusual behavior. There were no known ingestions or  medications in the household. There was no evidence of trauma.  Interview and History:  At 9 PM the previous night, Ella was described by her mother as appearing more quiet  than usual. They had spent the day traveling from the grandmother’s house and Ella had  been carsick so had not eaten very much during the day. When they got home, Ella had  some water and went to bed. Ella slept longer than usual and was found unresponsive    by her mother at 9AM; at this time her mother called 911.  

Follow-up tests: 

1. Blood glucose: 23 mg/dL (normal range 90 – 125 mg/dL)  

2. Repeat blood glucose: 50 mg/dL following administration of glucagon  

3. Urinary acids: Markedly elevated levels of glutaric, ethylmalonic, and dicarboxylic  acids; ketones absent  

4. Serum free fatty acids: 0.84mmol/L (normal range: 0.00-0.72 mmol/L)  

 

Treatment:    She was transferred to the pediatric intensive care unit and remained comatose for 16  hours. Blood glucose levels remained stable with a continuous infusion of dextrose.  Inpatient treatment consisted primarily of glucose supplementation and supportive care.  Questions:  In this individual, at the time of presentation, what is the relative ratios of the following  hormones:  insulin, epinephrine, glucagon, cortisol.  

Based on the data presented above, this individual most likely has a primary deficiency in  which of the following pathways? Please describe why you choose a specific pathway and why  you DID NOT choose other pathways.  A. Glycogenolysis  B. Gluconeogenesis  C. Lipolysis  D. Glycogen synthesis  E. Glycolysis  F. Ketogenesis  G. β-oxidation  H. Protein catabolism    Based on your choice above, would the use of carnitine supplementation be of any benefit  to your patient? (Review the role of carnitine!)

 

Case 2:  A 48-year old female presents to her physician with concern of worsening fatigue over the  past months.  She reports feeling tired out all the time and unable to concentrate. Nothing seems to  make it better, not even rest. She has not seen a physician in a number of years other  than for routine OB/gyn care and reports having gradually put on 40-50 lbs. over the  past 10 years. (Current weight 253; height 65.5 inches)  She undergoes an oral glucose tolerance test and based on that data (and other  laboratory values) she is diagnosed with type 2 diabetes. Further testing shows she is also  hypertensive and has hyperlipidemia.  What is the metabolic connection between type 2 diabetes and hyperlipidemia? Be specific in  your discussion and include relevant enzymes related to lipid metabolism.    Circulating levels of which lipoproteins would be consistent with a diagnosis of hyperlipidemia?  Be specific and include rationales for why some lipoproteins may be elevated and others not.    This individual is prescribed metformin to help manage her blood glucose levels. Describe the  proposed mechanisms by which metformin reduces blood glucose levels and increases  beta-oxidation. Be sure to include a discussion of AMP Kinase in your answer.

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