NBME 24 Answers : Block 3 : #36 = A 1-month-old male newborn is brought to the ...

+0 upvote downvote
submitted by zelderonmorningstar(10),

Can someone explain why the answer couldn’t be phenylalanine?

donutsnduodenums The kid has albinism, which is due to decreased tyrosinase activity. If he has a problem metabolizing Phenylalanine, he would be presenting with the PKU sx like intellectual disability, musty body odor, etc., in addition to his fair complexion. +3

zelderonmorningstar I see, so if it was PKU he wouldn’t just be presenting for a routine examination. It would be one of those “oh crap what’s wrong with my baby” ones. +2

wowo FA2019 p83 +

nbme4unme Just a note that UWorld says phenylketonuria patients ALSO have albinism, it's just that the neuro sx and musty order are giveaways. +1