Pyruvate kinase deficiency (PKD) can be inherited in an autosomal recessive manner, which means that a child must inherit a gene with the disease-causing mutation from both parents in order for the disorder to be inherited
BACKGROUND
Pyruvate kinase deficiency (PKD) can be inherited in an autosomal recessive manner, which means that a child must inherit a gene with the disease-causing mutation from both parents in order for the disorder to be inherited. The PLKR gene regulates the synthesis of the pyruvate kinase enzyme, which is located in the liver and red blood cells.
Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterized by the premature destruction of red blood, which is called hemolytic anemia. The altered red blood cell has a shortened lifespan leading to hemolytic anemia. Initial lab tests may be performed to determine whether anemia is present and whether it is due to hemolysis.
QUESTION
In the RBCs of the patient described above, which of the following would be expected?
A. ADP to ATP ratios would be elevated above anormal.
B. NADP+ would increase relative to NADPH.
C. Ribulose 5-phosphate levels would decrease.
D. NADH to NAD+ ratios would decrease.
E. Methemoglobin levels would increase.
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