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anC ooemnes paelinx hwy het aswnre tcndo’lu be lyp?ennialeahn
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.+182019-05-21T09:51:19Z
zelderonmorningstarI 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.+152019-05-21T09:52:01Z
nbme4unmeJust a note that UWorld says phenylketonuria patients ALSO have albinism, it's just that the neuro sx and musty order are giveaways.+42019-07-06T00:15:50Z
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.+22020-02-02T03:52:46Z
cmun777@pathogen7 you're not wrong it is specifically DOPA but would any of the other answer choices make any sense over tyrosine? +42020-02-13T20:44:11Z
submitted by zelderonmorningstar(77), 2019-05-21T09:51:08Z
anC ooemnes paelinx hwy het aswnre tcndo’lu be lyp?ennialeahn