For the Unit 4 Case Connections assignment, you will address two of the four case connection problems in an original 10-minute video presentation. 

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. 

    • Create a script for your presentation. You will submit your script along with your video presentation.
      • References in AMA format are also required. You may utilize any resources you like as you discuss your solution and methods, but you should include a reference page at the end of your script.
  • Case 2:  Below are three case scenarios. For each scenario determine:  1. Most likely enzyme deficiency and which amino acid(s) is no longer metabolized  2. If any amino acids become essential as a result of the deficiency  3. Potential vitamin supplements that may be useful for the condition and what steps in the  metabolism they could potentially help with.
  • Scenario 1: A full-term girl was born by normal vaginal delivery and was released from the  hospital at three days of age. At nine days of age a screening test for branched-chain  amino acids came back positive and the child was readmitted to the hospital for further  evaluation. There was no history of any genetic disease in either family, and both older  siblings were well.  
  • Scenario 2: A 69-year-old woman presented with a 30-year history of lower back and  large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules  were present over the cartilaginous portions of the ears and on the sclera. Past medical  history included aortic stenosis.  
  • Scenario 3: A 4-day old infant is being followed in your clinic. Her birth weight was 5.9  pounds and the pregnancy and birth (vaginal delivery) were normal. Results from  newborn screening demonstrated a phenylalanine (Phe) level of 6.6 mg/dL (normal  range: 1-2 mg/dL).

Case 4:  A 58-year-old woman presents to the emergency department with progressive fatigue  and weakness for the past 6 months. She is short of breath after walking several blocks.  On review of systems, she mentions mild diarrhea. She has noted intermittent numbness  and tingling of her lower extremities and a loss of balance while walking. She denies other  neurologic or cardiac symptoms and has no history of black or bloody stools or other  blood loss. On physical examination, she is tachycardic to 110 bpm; other vital signs are  within normal limits. The head-and-neck examination is notable for pale conjunctivas and  a beefy red tongue with loss of papillae. Cardiac examination shows a rapid, regular  rhythm with a grade 2/6 systolic murmur at the left sternal border. Neurologic  examination reveals decreased sensation to light touch and vibration in the lower  extremities; no depression noted. The hematology consultant on call is asked to see this  patient because of a low hematocrit level. Megaloblastic anemia is suspected.  Which of the following vitamin deficiencies is the probable cause of this presentation? Discuss  each option and note which deficiency is the most likely.  â— Iron  â— B6  â— B12    Discuss how this vitamin deficiency impairs purine or pyrimidine metabolism.    List potential laboratory tests and findings that would assist in your differential.

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