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NBME 24 Answers

nbme24/Block 4/Question#2

A full-term male newborn has lethargy, poor ...

Enzymatic reaction labeled ‘C’

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submitted by trazabone(4),

Ornithine transcarbamolase deficiency. Carbomoyl phosphate (CP) is shunted to pyrimidine synthesis --> increased orotic acid production (CPS you would not see orotic acidemia). Urea cycle also inhibited --> increased ammonia levels.