11 Jun BCHM 551 – A patient with OTC deficiency has recurrent
Question
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?
Describe the biochemical reason why deoxygenated hemoglobin S polymerizes? Apart from polymerization, what are the causes of the clinical manifestations in sickle cell disease?
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