3 yr-old presented with extreme fatigue, intolerance to physical activity and an enlarged liver. Blood tests revealed accumulation of very high levels of lactate in blood. Advanced tests revealed that this individual carried a mutation in the gene for a single liver enzyme. (a) Based on the information provided, speculate on which enzyme was mutated in this individual. Write the enzyme name here: (b) Justify your answer to (a). (c) Write the complete reaction (structures not required) for the reaction catalyzed by this enzyme
3 yr-old presented with extreme fatigue, intolerance to physical activity and an enlarged liver. Blood tests revealed accumulation of very high levels of lactate in blood. Advanced tests revealed that this individual carried a mutation in the gene for a single liver enzyme. (a) Based on the information provided, speculate on which enzyme was mutated in this individual. Write the enzyme name here: (b) Justify your answer to (a). (c) Write the complete reaction (structures not required) for the reaction catalyzed by this enzyme
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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A 3 yr-old presented with extreme fatigue, intolerance to physical activity and an enlarged liver. Blood tests revealed accumulation of very high levels of lactate in blood. Advanced tests revealed that this individual carried a mutation in the gene for a single liver enzyme.
(a) Based on the information provided, speculate on which enzyme was mutated in this individual. Write the enzyme name here:
(b) Justify your answer to (a).
(c) Write the complete reaction (structures not required) for the reaction catalyzed by this enzyme
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