Phenylketonuria (PKU) is a recessive human disorder in which an individual cannot appropriately metabolise the amino acid phenylalanine. This amino acid is not naturally produced by humans. Which of the following treatments would be most effective for people with PKU?

Question

Quizplus · Accepted Answer

The most effective treatment for PKU is to regulate the diet of the affected person to severely limit the uptake of phenylalanine. This is because the accumulation of phenylalanine can lead to severe neurological damage. While feeding them the substrate that can be metabolised into phenylalanine may be a short-term solution, it is not sustainable in the long-term as it could still result in the accumulation of phenylalanine. Providing the missing enzymes or an excess of the missing product is not effective as the underlying issue is the inability to metabolize phenylalanine, not the absence of enzymes or products.

Phenylketonuria (PKU) Is a Recessive Human Disorder in Which an Individual