You are a lst year resident who has been left in the ER alone because your colle
ID: 3164866 • Letter: Y
Question
You are a lst year resident who has been left in the ER alone because your colleagues are protesting health care reform. A patient comes in with extremely lean muscle mass. You suspect anorexia, until you watch her devour 2 Big Macs (they were hidden in her purse). A nurse suspects that she has a urea cycle disorder. You take a blood sample for testing 1. What can you test for in her blood that will suggest the patient has a urea cycle disorder? (8 points) first test comes back inconclusive. What else could you test for to see if the patient has a urea cycle disorder? (2 points)Explanation / Answer
1. Take a blood sample and test for presence of ammonia. Blood ammonia concentration is maintained at 10–40
?mol/L in healthy individuals. Ammonia > 60?mol/L causes symptoms such as anorexia, nausea, excitement, insomnia.
2. UCDs exhibit autosomal recessive inheritance. Mutations in the corresponding genes have been identified in patients of all UCDs including citrullinemia type 2 and the HHH syndrome (SLC25A13 gene).
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