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22 March, 02:07

Phenylketonuria (PKU) is a recessive human disorder in which an individual cannot appropriately metabolize the amino acid phenylalanine. This amino acid is not naturally produced by humans. Therefore, the most efficient and effective treatment is which of the following?

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Answers (2)
  1. 22 March, 03:01
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    The most efficient and effective treatment would be to regulate the diet of the patient by limiting the intake of the amino acid phenylalanine.

    Explanation:

    The defective gene due to phenylketonuria (PKU) inhibits the action of a specific enzyme as well as a co-factor which are necessary to metabolize the phenylalanine leading to excessive buildup and storage.

    Phenylalanine being an amino acid, it is found in almost all the protein-rich foods like meat, egg, milk and dairy products, nuts etc and most importantly present exclusively in the artificial sweetener aspartame.

    Consuming such foods will lead to increased buildup which affects the brain nerve cells leading to various neurological and psychiatric symptoms.

    A PKU-specific diet comprising of fruits and vegetables, and low-protein pasta, bread, and cereals which limits phenylalanine is usually prescribed for PKU patients. Newborns who have inherited PKU can be given breast milk.
  2. 22 March, 04:18
    0
    The question is incomplete, here's the complete question;

    Phenylketonuria (PKU) is a recessive human disorder in which an individual cannot appropriately metabolize the amino acid phenylalanine. This amino acid is not naturally produced by humans. Therefore, the most efficient and effective treatment is which of the following?

    a. Transfuse the patients with blood from unaffected donors.

    b. Regulate the diet of the affected persons to severely limit the uptake of the amino acid.

    c. Feed them the substrate that can be metabolized into this amino acid.

    d. Feed the patients an excess of the missing product.

    e. Feed the patients the missing enzymes in a regular cycle, such as twice per week.

    The correct option is (b) Regulate the diet of the affected persons to severely limit the uptake of the amino acid.

    Explanation:

    Phenylalanine is an essential amino acid, which make up protein in our body. Phenylketonuria (PKU) is a recessive human disorder in which an individual cannot metabolize the phenylalanine properly. The phenylalanine which we consumed through food is normally broken down by a specific enzyme and its co-factor. If the enzyme or its co-factor is insufficient, then the level of phenylalanine in the blood increases. This high phenylalanine levels in the blood can cause disruptions in the neurotransmitters and results in brain damage.

    Phenylalanine can not be eliminated from the diet completely. So the treatment of PKU is with a strict low-phenylalanine diet. This diet mainly consists of fruits, vegetables, low-protein breads, pastas, rice, corn, cereals and potatoes, while avoiding foods rich in protein like meats, dairy, eggs, nuts, legumes etc. Careful balancing and frequent monitoring is important. This dietary restriction is advisable throughout the life.
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