donutsnduodenumsThe 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.+22
zelderonmorningstarI see, so if it was PKU he wouldnโt just be presenting for a routine examination. It would be one of those โoh crap whatโs wrong with my babyโ ones.+16
nbme4unmeJust a note that UWorld says phenylketonuria patients ALSO have albinism, it's just that the neuro sx and musty order are giveaways.+4
pathogen7Technically, albinism is a problem processing DOPA, and not tyrosine, no? I always associated "tyrosine processing defect" with ochronosis, which is why I didn't choose tyrosine. Guess I'm wrong.+5
cmun777@pathogen7 you're not wrong it is specifically DOPA but would any of the other answer choices make any sense over tyrosine? +5
submitted by โzelderonmorningstar(96)
Can someone explain why the answer couldnโt be phenylalanine?