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A patient with OTC deficiency has recurrent hyperammonemic events over a 3-month period despite reduced protein intake and increased doses of sodium...

  1. A patient with OTC deficiency has recurrent hyperammonemic events over a 3-month period despite reduced protein intake and increased doses of sodium benzoate and sodium phenylacetate. What are the factors that need to be considered as a cause of the hyperammonemia in this individual? (Consider the dynamic of nitrogen balance over this period.) What is the likely treatment?
  2. Describe the biochemical reason why deoxygenated hemoglobin S polymerizes? Apart from polymerization, what are the causes of the clinical manifestations in sickle cell disease?
  3. Patients who have hemoglobin SS as well as a mutation that produces hereditary persistence of fetal hemoglobin have few symptoms of sickle cell disease. Explain why this is the case.
  4. A mother complains to you at a clinic visit that her 10-year-old child,homozygous for hemoglobin S, still has enuresis at night. Can you explain to her, and to yourself, why this might be the case? What other organ dysfunction might be expected in a child this young?
  5. Describe the structural organization of the membrane skeleton that is a major determinant of red cell shape and deformability.
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