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  #1  
Old 08-14-2011
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Default Bio chem Q

A 7-year-old boy is examined by his pediatrician because of complaints of severe cramping pain in his legs whenever he rides his bike. He also expriences nausea and vomiting during these attacks. The child has noted that the severity of the cramps is most intense after din- ners that include baked potatoes or pasta, and sometimes bread. Clinical studies undertaken following a treadmill test demonstrate myo- globinuria, hyperuricemia, and increased serum bilirubin. Which of the following enzyme deficiencies is associated with these clinical findings?


(A) glucose-6-phosphatase
(B) glycogen synthase
(C) liver glycogen debranching enzyme
(D) muscle phosphofructokinase
(E) muscle phosphorylase
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  #2  
Old 08-14-2011
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muscle phosphorylase glycogen storage disease
exercise produces severe cramps n myoglobinuria
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  #3  
Old 08-14-2011
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e.) McCardle disease

please correct me if i am wrong thank you.



Quote:
Originally Posted by drgsarunprasath View Post
A 7-year-old boy is examined by his pediatrician because of complaints of severe cramping pain in his legs whenever he rides his bike. He also expriences nausea and vomiting during these attacks. The child has noted that the severity of the cramps is most intense after din- ners that include baked potatoes or pasta, and sometimes bread. Clinical studies undertaken following a treadmill test demonstrate myo- globinuria, hyperuricemia, and increased serum bilirubin. Which of the following enzyme deficiencies is associated with these clinical findings?


(A) glucose-6-phosphatase
(B) glycogen synthase
(C) liver glycogen debranching enzyme
(D) muscle phosphofructokinase
(E) muscle phosphorylase
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drgsarunprasath (08-14-2011)
 
  #4  
Old 08-14-2011
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I do not understand why hyperuricemia in McArdle.

Why does symptom get worse after carbohydrate dinner
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  #5  
Old 08-14-2011
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Quote:
Originally Posted by usluipek View Post
I do not understand why hyperuricemia in McArdle.

Why does symptom get worse after carbohydrate dinner


it is D) Tarui disease, more severe than McArdie, nausea/vomit after carb rich meal, compensated hemolytic anemia, abnormal polysacharide in muscle fibers
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Old 08-14-2011
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D.muscle phosphorylase
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Old 08-14-2011
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i think ans s DDDDDDDD
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Old 08-14-2011
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D.muscle phosphorylase
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Old 08-14-2011
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Default D)Tauri's disease

Quote:
Originally Posted by jahn77 View Post
it is D) Tarui disease, more severe than McArdie, nausea/vomit after carb rich meal, compensated hemolytic anemia, abnormal polysacharide in muscle fibers


Glycogen storage disease VII (Tauri's disease)

Pt symptoms worsen with High carbohydrate diet..
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Old 08-15-2011
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Quote:
Originally Posted by usmleman2020 View Post
D.muscle phosphorylase
muscle phosphorylase is option E not D!
and by the way my ans is E! LOL
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