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NBME 23 Answers

nbme23/Block 4/Question#29

A 2-week-old male newborn is brought to the ...

Galactose-1-phosphate uridyltransferase

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 +9  upvote downvote
submitted by thomasalterman(72),

Patient is current breast-fed, so we can eliminate fructose (fructose is found in honey and fruits and some formula, but not in breast milk). Patient has reducing substances but no glucose in the urine, so he must some non-glucose sugar. My differential for reducing non-glucose sugars in the urine is disorders fructose metabolism or galactose metabolism. We have eliminated fructose, so that leaves us with galactokinase deficiency or classic galactosemia.

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




 +0  upvote downvote
submitted by cathartic_medstu(3),

FAB GUT

Fructose is to Aldolase B as Galactose is to Uridyl Transferase. Leads to phosphate depletion.

Fructokinase def and Galactokinase def are kinder.

FA 2018 pg 80