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Question: A newborn infant with highly elevated levels of blood ammonia was diagnosed to have a urea cycle …

by | Dec 5, 2023 | Posted Questions

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A newborn infant with highly elevated levels of blood ammonia
was diagnosed to have a urea cycle enzyme defect in either
carbamoyl phosphate synthetase or arginase. The clinical lab was
able to measure the concentrations of alanine, glutamine, and
arginine in the blood, but enzyme assays are not available. How
would knowledge of abnormal levels of alanine, glutamine, or
arginine in the blood be useful to distinguish between an enzyme
defect in carbamoyl phosphate synthetase or arginase?

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