Question

How is phenylketonuria treated?

Answer 1

Phenylketonuria:

1. It is an autosomal recessive disorder.
2. This condition is caused due to the deficiency of an enzyme called phenylalanine hydroxylase.
3. The main function of this enzyme is the conversion of phenylalanine into tyrosine.
4. When this conversion is blocked due to deficiency of the same enzyme, phenylalanine is converted to phenylpyruvate and is excreted through the urine.
5. Major symptoms of this disease are- irritability, convulsions, mental retardation, microcephaly, delayed development, loss of skin, and hair pigmentation, etc.

Treatment for phenylketonuria:

1. The major treatment of this disease includes limiting the diet rich in protein, especially those that contain phenylalanine.
2. One should take food that is optimum for the growth and development of the body.