Tiff
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When exercising, a 19 year old man develops painful cramps that are associated with acute episodes of myoglobinuria. Administration of oral glucose during the acute episodes does not aleviate the symptoms. Additional studies show that a hemolytic anemia is also present. The patient most likely has a deficiency of which of the following enzymes?
A. Branching enzyme
B. Glucose 6 phosphatas
C. alpha-Glucosidase
D. Liver phosphorylase
E. Phosphofructokinase
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| new_n_lost
Politically InCorrect
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E. Phosphofructokinase ??
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| macintosh
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Pt appears to be suffering from inadequate energy production because of enzyme defect in glycolysis. Additionally oral glucose can not be metabolized. Features are similar to Pyruvate Kinase defieciency.
During excercise when energy demand is high, AMP concentration exceeds that of ATP. Phosphofructokinase 1 (rate limiting enzyme of glycolysis) is activated, and glycolsis increases.
Arthritis occurs because of hyperuricemia following excercise because of accelerated muscle purine breakdown.
Complete PFK deficiency is fatal.
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| jean robert
Forum Guru
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c.- alpha glucosidase.
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| Tiff
Forum Guru
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E is correct. PFK converts fructose 6-phosphate to fructose 1,6-bisphosphate. Disease mimicks McArdles disease. Alpha-glucosidase leads to Pompe's disease.
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| jean robert
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GOOD ONE.
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