A 5-Year-Old Boy Is Brought to the Office Due to Concerns

A 5-year-old boy is brought to the office due to concerns about his speech and motor skills.  The patient has a history of speech delay, and his parents say that his speech has become more slurred lately.  He also has an unsteady, staggering gait that has progressively worsened over the past year.  In addition, the mother states that the patient's eyes and head "do not move smoothly" when he looks at moving objects.  Medical history is significant for recurrent ear and pulmonary infections.  Vital signs are normal.  Physical examination reveals numerous superficial nests of distended capillaries on the face and ears that blanch with pressure.  This patient's condition is most likely due to a genetic defect affecting which of the following processes?

A) DNA break repair
B) MHC class II antigen expression
C) Mitochondrial iron transport
D) Purine catabolism
E) Sphingolipid degradation

Correct Answer:

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