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Discussion

In phenylketonuria, according to the epidemiological wheel theory the major role is played by:

  • A.Environmental factors
  • B.Dietary factors
  • C.Genetic factors
  • D.Genetic and dietary factors

Answer: C

The major role is played by genetic factors.

The wheel model of disease causation draws the host as a hub with a genetic core, surrounded by the biological, physical and social environment. The relative size of each part changes with the disease. In a hereditary condition such as phenylketonuria, an inborn error of metabolism caused by a recessive defect in the enzyme phenylalanine hydroxylase, the genetic core is the largest part of the wheel.

Diet matters only because phenylalanine in food accumulates when the enzyme is missing, which is why a low-phenylalanine diet controls the disease; but diet is not the cause. Environmental factors alone do not produce PKU, so the options naming them, or diet as a co-equal cause, are weaker than genetic factors.

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