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NBME 23 Answers

nbme23/Block 4/Question#29 (34.0 difficulty score)
A 2-week-old male newborn is brought to the ...
Galactose-1-phosphate uridyltransferaseπŸ”,πŸ“Ί

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submitted by thomasalterman(161),
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etnPita si trurnec db,fsaee-rt os we anc tamilenie rcoetsfu urfect(so is dfonu in yheon and tisruf nad mose ,moarful tbu tno ni aetrbs ki)lm. tnieatP sha ingcudre scbastnseu btu on sugloce in hte ner,iu so he mstu smoe lnuncooes-g gaur.s yM ftnelidirfae fro eirngudc luosenc-gno usasgr in teh reuin is rsdoiedsr utsforec ebtlismoam ro sagtaloce We have itndaleiem rutsfec,o os tath esvlea su ithw tglaanikcosea yenceifdci ro calscsi .gtmieaasloac

sympathetikey  & Galactokinase deficiency would be much milder. +8  
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). +3  
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) +8  

submitted by cathartic_medstu(30),
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uctresoF is to oeAalsld B as aatcolsGe si ot rUiyld .Lsaar edesfraTnes ot aeohppths eliot.dnpe

tancokueirsF efd dna aeniolcaakGts fed are eriknd.

FA 1280 pg 08