drpkaur
Forum Guru
Topics: 195
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A newborn is admitted with convulsions, vomiting, and avoidance of feeding. There is liver enlargement and the urine tests positive for reducing sugars, but negative for glucose. What enzyme should you test for to diagnose this problem?
A. Glucokinase
B. Fructokinase
C. Fructose 1-phosphate aldolase
D. Lactase
E. Galactose 1-phosphate uridyl transferase
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| Leopard
Forum Guru
Topics: 30
Posts: 401
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E
A case of galactosemia
Best of luck
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| eytanraz
Forum Newbie
Topics: 1
Posts: 68
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I try to explain, Leopard:
A. Glucokinase is the enzyme that converts in the liver and the pancreas glucose in glucose 6 Phosphate. Glucose is not in th eurine, so we think about something else
B. Fructokinase is related to the metabolism of fructose, transforming fructose in fructose 1 phosphate. It couldn' be because lack of this enzyme determine essential fructosuria , an asymptomatic disease
C. Fructose 1-phosphate aldolase lack of this enzyme determines fructose intolerance, that can present with such symptoms (but is not associated with fructosuria ?)
D. Lactase carachteristically diarrhea not vomiting
E. Galactose 1-phosphate uridyl transferase responsible for classic galactosemia, an autosomic recessive disorder with galactosemia and galactosuria, vomiting diarrhea and jaundice
I mean, Leopard, it is for exclusion cause it is not so immediate, isn't it?
And: for reducing sugars in the urine, what do they mean exactly?
Thanks, Eytan
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| drpkaur
Forum Guru
Topics: 195
Posts: 808
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correct answer is E..Good going Eytan.
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| docsrinu
Forum Elite
Topics: 26
Posts: 213
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both fructose & galactose r reducing sugars. can someone post the differentiating features b/w C & D deficiencies.
thanx.
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| docsrinu
Forum Elite
Topics: 26
Posts: 213
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sorry.. C & E deficiencies
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