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nbme24/Block 3/Question#36 (26.0 difficulty score)
A 1-month-old male newborn is brought to the ...
Tyrosine🔍
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 +0 
submitted by zelderonmorningstar(77),
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anC ooemnes paelinx hwy het aswnre tcndo’lu be lyp?ennialeahn

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. +18  
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. +15  
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. +4  
pathogen7  Technically, 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. +2  
cmun777  @pathogen7 you're not wrong it is specifically DOPA but would any of the other answer choices make any sense over tyrosine? +4  
qiss  @pathogen7 also yes- you can't make DOPA because of a defective tyrosinase enzyme. This enzyme also metabolizes tyrosine into DOPA before it metabolizes DOPA https://www.google.com/search?q=tyrosinase&sxsrf=ALeKk021WaFQzRNr99BZVujxqRii-GzV6g:1585781210231&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjzt-itp8joAhVDMqwKHUGYC3wQ_AUoAXoECBgQAw&biw=1280&bih=720#imgrc=MyxHLTV0gV7BKM +  
qiss  link fixed hopefully +1