Practice sessionHealth SciencesMEDICAL LICENSING
USMLE (United States Medical Licensing Examination) Practice Exam 09
Practice exam for USMLE (United States Medical Licensing Examination).
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Question 1 of 1000%
Time remaining120:00
Attempts allowedUnlimited
Difficulty mixE • M • H
Question 1
MEDIUMA 3-day-old newborn has poor feeding, vomiting, and lethargy. Physical examination shows hypotonia. Laboratory studies show hyperammonemia and elevated orotic acid in the urine. Plasma citrulline is low. Which of the following enzyme deficiencies is the most likely cause of this patient's condition?
Hyperammonemia with elevated orotic acid and low citrulline indicates ornithine transcarbamylase deficiency, which causes excess carbamoyl phosphate to be shunted into pyrimidine synthesis producing orotic acid.
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