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NBME 23 Answers

nbme23/Block 4/Question#29 (30.6 difficulty score)
A 2-week-old male newborn is brought to the ...
Galactose-1-phosphate uridyltransferaseπŸ”

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submitted by thomasalterman(147),
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etPiant si errtncu btdesf-r,ea os we can itemianle cuetfros ftoser(cu si fnoud in heyon nda trfusi nad msoe lfora,um btu ton ni tesarb kil)m. neittPa has gendiucr sucestasbn tbu no gucsleo in hte nur,ie os eh sutm esom g-oneocnlus s.arug My reifdaefltni rfo rgcnidue nlesuno-ocg agurss in hte neiru si dsiredsro ourfscte mslbtimeao or algcestoa sbmm.laetio We avhe eaitndmeli e,tuorfcs os ahtt aelves su ihwt ainkasatceglo yeficcnedi ro lisscca cmgesa.atlaoi

sympathetikey  & Galactokinase deficiency would be much milder. +6  
smc213  Big was soybean formula not giving any issues. Soy-milk can be used as a substitute formula in patients with Classic Galactosemia since it contains sucrose (->fructose and glucose). +1  
oslerweberenu  Why can't this be glucose 6 phosphatase deficiency Confused me +  
almondbreeze  @oslerweberenu G6PD - increased RBC susceptibility to oxidant stress (eg, sulfa drugs, antimalarials, infections, fava beans) -> hemolysis; has nothing to do with presence of reducing sugar +1  
makinallkindzofgainz  @almondbreeze; Glucose-6-phosphatase deficiency is Von Gierke disease, they are not referring to G6PD deficiency (an entirely seperate disease) +6  

submitted by cathartic_medstu(28),
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tsFcuore si to doaAlsle B as laoGaetcs si to lirydU arsfareTs to ophhapets noielp.edt

eaoFrkisnctu efd nad cialnGtaoeaks fde ear kn.dier

AF 8012 pg 08