Mental retardation, Hepatosplenomegaly, & Cataract Diagnosis - USMLE Forums
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  #1  
Old 05-28-2012
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Biochemistry Mental retardation, Hepatosplenomegaly, & Cataract Diagnosis

A 2 week-old boy is brought to your clinic because of vomiting and diarrhea accompanied by jaundice. Tow months later, the boy develops cataracts and ascites, and switched to a milk diet which stabilizes him.When the boy turns one year age develops mental retardation and hepatosplenomegaly. Which of the following substances is most likely deficienct in this child(See the slide below)?


(A)
(B)
(C)
(D)
(E)
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  #2  
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I think d
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  #3  
Old 05-28-2012
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D's my guess as well.
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Old 05-28-2012
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D it is....
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Old 05-28-2012
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Ill go with D too...........
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Matched!!!
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I wanna know what do you think guys about of both questions today? Easy, hard, interesting, important.
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Old 05-28-2012
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Quote:
Originally Posted by alfjof View Post
I wanna know what do you think guys about of both questions today? Easy, hard, interesting, important.
Moderate questions ! nice job
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Old 05-29-2012
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Question does seem imp. I just remembered him yelling "Cataract is a buzz word" in the Biochem video lecture!
PS. My guess is D too!
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Old 05-29-2012
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Default not a guess, but the correct answer...

galactose-1-p UTFase (D)
Accumulation of Gal-1P in the brain, liver causes the distinguishing features. Galactokinase deficiency can also cause cataracts, because the lens has Aldolase which converts galactose into galactitol, which accumulates and draws water into the lens --> just like any sugar alcohol.
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Correct answer D: Galactosemia
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Old 05-30-2012
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D.... I have to say... I also like this Q
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Old 05-30-2012
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the correct answer is d . it reminds me of that kaplan lecture . when the substrate deposit in liver producng jaundice in central nervous system producing symptom like mental retardation.
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