q.2 = ? - uragan

[ArchivalUser]

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

[ArchivalUser]

Hi Mr. uragan :-)

EE

[ArchivalUser]

E..erythrocyte pyruvate kinase deficiency...

Both autosomal dominant and recessive] inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.

.......................
.Erythrocytes manufacture ATP through glycolysis. A deficiency in pyruvate kinase, the enzyme that potentiates the last step of glycolysis (phosphoenolpyruvate converted to pyruvate), results in RBCs with decreased energy.

the lack of ATP impairs the Na+/K+-ATPase and other ATP-dependent processes, leading to a cellular loss of K+ and water and an intracellular accumulation of Na+. This cellular swelling is comparable to ischemic changes in which cells denied of O2 suffer from an ATP deficiency. This swelling causes rigidity of the RBC and eventually splenic hemolysis from an inability to distort through splenic sinusoids.


Very nice Q. Thank you

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[ArchivalUser]

Right

@Hello Ms. Lanna :-)

@Thanks Maryam for the Nice explanation.