USMLE Forums banner

Which enzyme deficiency causing this hemolytic anemia?

5K views 8 replies 5 participants last post by  Seetal 
#1 ·
Two sisters are diagnosed with hemolytic anemia. Their older brother was previously diagnosed with the same disorder. Two other brothers are asymptomatic. The mother and father are second cousins. Deficiency of which of the following enzymes would be most likely to cause this disorder?

A. Debranching enzyme
B. Glucose-6-phosphatase
C. Glucose-6-phosphate dehydrogenase
D. Muscle phosphorylase
E. Pyruvate kinase
 
#4 ·
E is the correct answer). Only two enzymes of those
listed in the answer choices specifically cause hemolytic anemia:pyruvate kinase and glucose-6-phosphate dehydrogenase.G6PDdeficiency is inherited as an X-linked recessive trait, so females would not be affected.pyruvate kinase deficiency is an AR disorder,affecting males and females approximately equally. If this enzyme is deficient, red cells have trouble producing enough ATP to maintain the Na+/K+ pump on the plasma membrane, secondarily causing swelling and lysis.
 
This is an older thread, you may not receive a response, and could be reviving an old thread. Please consider creating a new thread.
Top