Phenylketonuria and its treatment: Medications and diet

Early treatment is started mainly through screening. It should start before the 3rd month of life. If phenylketonuria is not recognized or if treatment and dietary procedures are not followed, the disease develops into severe CNS damage.

Treatment consists mainly of following a diet, where the child must eat with a minimum amount of phenylalanine because otherwise there is a risk of irreversible damage to the brain and its important functions.

If such a diet induces a state of deficiency of some important minerals or vitamins, it is necessary to artificially replace them. The diet must be followed throughout life. However, especially in childhood and adolescence, when the brain is still developing.

The level of phenylalanine in the blood should be constantly monitored for the rest of my life. The optimal level is approximately between 120 and 150 mmol per liter. Decreasing this value too much can cause problems with fatigue and anorexia.

So you need to find the perfect balance. Each person is individual, so this also applies to this disease. Everyone has a different tolerance and reacts differently. Therefore, treatment is approached individually.

As phenylalanine is part of the protein, the diet must be low protein. The diet contains such a composition that the amino acids that are not harmful get into the body. And therefore they must be supplemented separately.

Tyrosine, the production of which is insufficient or is stopped, is also added to the diet. Early treatment, as well as dietary restrictions, will ensure the normal development of the child's brain. This will prevent the development of mental retardation and other irreversible changes.

The regimen must also be followed in adulthood. Treatment disruption could affect metabolic processes in the body. At the level of neurotransmitters such as dopamine, but also adrenaline, norepinephrine, and other substances.

Dieting is also necessary if a woman with the disease is planning to become pregnant or is pregnant. It is recommended that the level of phenylalanine in the blood be normal for at least three months before conception. At high levels, phenylalanine passes from the mother's blood through the placenta into the fetal's blood, thus being toxic to the fetus. The form of pregnancy phenylketonuria is referred to as maternal or maternal phenylketonuria.