nbme24/Block 3/Question#36
A 1-month-old male newborn is brought to the ...
Tyrosine
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 2019-05-21T09:51:19Z
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 2019-05-21T09:52:01Z
wowo
FA2019 p83
+ 2019-06-27T21:50:33Z
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 2019-07-06T00:15:50Z
submitted by zelderonmorningstar(9), 2019-05-21T09:51:08Z
Can someone explain why the answer couldn’t be phenylalanine?