A comatose infant is brought to the ER. In the course of the examination, plasma ammonia was found to be elevated 20-fold over normal values. Urine orotic acid and uracil, that require carbamoyl phosphate for their formation, were both greater than normal. A defect of which of the following enzymes is the most likely diagnosis?A. ArginaseB. Argininosuccinate lyaseC. Carbamoyl phosphate synthetase 1 (ammonia substrate)D. Carbamoyl phosphate synthetase 2 (glutamine substrate)E. Ornithine transcarbamoylase
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A comatose infant is brought to the ER. In the course of the examination, plasma ammonia was found t...
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