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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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 +13 
submitted by thomasalterman(147),
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Pntieat is rtucern arteb,sdfe- so ew nca aemeiintl ucstfoer rctofseu( is uofnd in yohen nda ifsutr nda esmo amf,olru btu not in tebsra klmi). Piantet sha cuidgren bctssseaun tub on gloseuc ni hte rnui,e so he ustm seom nl-eunogocs uasrg. My dlfeafirient rfo idgecunr geulsoon-nc ssguar ni teh eunir is srrosddei ofrcutes mltesimoab ro atgoalcse .bemimatosl We veha etidamneli teforu,sc so atht evesal su iwth knilacasogeta ecfdecnyii ro alicscs t.gsieamaalco

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  



 +3 
submitted by cathartic_medstu(28),
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ABF GUT

usortcFe si to Alolaesd B as oaGltcesa si to lrdyUi eaens.Te ssrLrfada to paeostphh lee.ointpd

ioaecukFntrs fde nad etsnakoGalaic efd ear e.krdni

AF 8201 gp 08