NBME 20 Answers : Block 4 : #40 = A 6-month-old girl is brought to the emergency ...

nbme20/Block 4/Question#40

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

Ornithine transcarbamylase

+1 upvote downvote
submitted by lamhtu(10),

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

+0 upvote downvote
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. +