NBME 20

nbme20/Block 4/Question#40

A 6-month-old girl is brought to the emergency ...

Ornithine transcarbamylase

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submitted by lamhtu(10),

Unusual that the patient is a young girl, OTCD is XLR inheritance.


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submitted by kentuckyfan(0),

Urea cycle: Decreased citrulline and hyperammonemia can differentiate it from orotic aciduria.

hello  As the poster indicates, the described patient has a defect in the urea cycle, specifically an ornithine transcarbamylase deficiency. Added for clarity to future readers. +