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Was also looking at p. 260. The OTC explanation is not clear with PORNOthine carboxylase. I don’t think there’s an enzyme with that name, and I could not make sense of that sentence. I could get PORTHINE transcarbamylaX and EROTIC acid – that would be a good mnemonic.
Yup. There was a type-o, and I think the mnemonic could be stronger. I’m changing it to the following for the next print and online guide. Thanks!
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
In ornithine transcarbamylase deficiency, the serum is completely void of citrulline and arginine because OTC is not catalyzing the reaction needed to make citrulline! This is the most common defect and it’s X-linked. Much more symptomatic in boys than the girl carriers who only get symptoms when they are sick. Look for a HIGH urine Orotic Acid (all of the built up carbamoyl phosphate gets turned into this).
MNEMONICS: For ornithine transcarbamylaX deficiency, think PORNOthine transcarboxylase deficiency (or PORNO THEME transcarboxylase deficiency). Who watches EROTIC (Orotic) movies? Boys! That should remind you that it’s an X-linked disorder. “Erotic” should remind you to look for an elevated OROTIC acid.
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