A rural population in Quebec has a significantly higher level of phenylketonuria

Question

A rural population in Quebec has a significantly higher level of phenylketonuria compared to the urban population of Montreal. There are multiple explanations for this phenomenon. Propose four hypotheses, and specifically describe how they could explain the difference between the rural and urban populations. What type of information or research would be used to determine which explanation/s is/are most likely?   

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Explanation / Answer

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. It shows an autosomal recessive pattern of inheritance and both the parents of an individual carry one copy of the mutated phenylalanine hydroxylase (PAH) gene. The persons with this gene mutation cannot process phenylalanine in the diet and an increase in this amino acid causes brain damage.

The incidence of the disease is higher in rural population becuase of:
(a) geographical isolation (non-avalilability of phenylalanine rich foods);
(b) lower socio-economic status (poor knowledge of disease diagnosis);
(c) higher rates of health risk behaviors (no awareness about health care); and
(d) consanginous marriages of the people in the rural area (less awareness about inherited diseases).

Phenylalanine is found significantly in high amounts in foods such as milk, eggs and meat. The people in rural population in Quebec may not have been exposed to foods containing phenylalanine and that might be the reason why they do not produce PAH gene for processing phenylalanine containing foods.

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