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A 4-Year-Old Girl Presents in the Clinic with Megaloblastic Anemia

Question 1

Multiple Choice

A 4-year-old girl presents in the clinic with megaloblastic anemia and failure to thrive.Orotic acid is demonstrated in blood and urine.Enzyme measurements of white blood cells reveal a deficiency of orotate phosphoribosyl transferase and abnormally high activity of aspartate transcarbamoylase.Which one of the following treatments will reverse all these symptoms?


A) Blood transfusion.
B) White blood cell transfusion.
C) Dietary supplements of phosphoribosylpyrophosphate.
D) Oral thymidine.
E) Oral uridine.

Correct Answer:

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