Pyruvate kinase deficiency PKD is a rare genetic disorder .pdf

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Pyruvate kinase deficiency (PKD) is a rare genetic disorder that is characterized by the premature destruction of red blood cells also referred to as hemolytic anemia. Instead of the normal lifespan of 120 days, erythrocytes with PKD typically are viable only a few days to a few weeks. A. Describe the function of pyruvate kinase including what pathway it is used in. B. Explain why erythrocytes are particularly sensitive to this mutation. C. Suggest a reason for the observed low incidence of mutations in human glycolytic enzymes..

Pyruvate kinase deficiency (PKD) is a rare genetic disorder that is characterized by the premature
destruction of red blood cells also referred to as hemolytic anemia. Instead of the normal lifespan
of 120 days, erythrocytes with PKD typically are viable only a few days to a few weeks. A.
Describe the function of pyruvate kinase including what pathway it is used in. B. Explain why
erythrocytes are particularly sensitive to this mutation. C. Suggest a reason for the observed low
incidence of mutations in human glycolytic enzymes.

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