Phenylketonuria - do you know enough about this disease?

Phenylketonuria - do you know enough about this disease?

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Phenylketonuria is a genetic disease that affects one child in eight or ten thousand born. It results from the incorrect transformation of one of the protein components - phenylalanine, which cannot be converted into tyrosine and accumulates in the blood, posing a significant threat to the developing child. The reason is the mutation on the 12 chromosome that arises in utero. A disease diagnosed quickly does not have to cause any discomfort. Following the doctor's instructions, a person suffering from phenylketonuria can live a normal life without restrictions.

Phenylketonuria: an inherited disease with no symptoms at first

Theoretically, a child is born healthy. At first glance, no irregularities can be identified. They are also invisible when examining body fluids that indicate normal phenylalanine levels. However, the blood phenylalanine level increases rapidly.
The disease is hereditary. Most often transmitted by healthy women and healthy men who are its carriers but do not experience any symptoms of the disease. Phenylketonuria is an abnormality that does not have to be passed on to every parent child. For example, one child in four may suffer from it. The risk of transmission of phenylketonuria is greater if the carriers of the disease are two parents.


Excess phenylalanine leads to dangerous effects. Negatively affects some mental structures and can lead to irreversible damage and at the same time delay in mental development.
Initially undetected and untreated disease causes delay in motor development, then leads to adverse consequences in mental development.
Sometimes the disease in early infancy produces allergy-like symptoms. Pimples and inflammatory lesions appear on the skin, which may be of varying severity. Sometimes, the so-called "mouse smell", a characteristic odor typical of phenylketonuria, can also be seen in children. With age, the symptoms of mental disorders come to the fore. Physical symptoms are less noticeable: muscle tremors, increased muscle tension, etc.

Mandatory examination

In practice, however, all these ailments described above are extremely rare. In Poland, there is an obligation to perform phenylketonuria tests, which is a screening test (a blood sample is taken on a special paper). Newborns who show an abnormal result are referred for further examination.

Treatment of phenylketonuria

Phenylketonuria is treated with a diet, a specially composed menu that allows you to maintain the correct concentration of phenylalanine in the blood. It is best if treatment for this congenital disease begins on the seventh-tenth day of life.

In practice, the diet regimen consists in taking as little amounts of phenylalanine as possible, i.e. maximum limitation of protein products, especially meat, milk, eggs, cheese, cereal products, legumes, seeds and nuts. People with phenylketonuria should also monitor the amount of aspartame, a low calorie sweetener, which is a source of phenylalanine. Fortunately, legal regulations in the European Union recommend placing relevant information on the product packaging, so that the customer can make an informed decision in this respect.

In exchange, the above-mentioned banned products are consumed by prescription protein replacement products with a low phenylalanine content. In addition, vegetables, fruits and healthy fats are recommended. Egg yolks, low-phenylalanine bread, pastries and pasta made from flour with a low phenylalanine content are allowed in small quantities.

The diet of a child with phenylketonuria should be composed by a pediatrician or dietitian. This is because the menu must be adapted to individual needs and should take into account the severity of the disease.

Treatment of phenylketonuria from the very first weeks of life gives proper confidence in the proper development of the child. Following the doctor's instructions, following dietary recommendations and systematic checks allow you to maintain peace and internal harmony.

Lifelong diet?

There is no definite answer to how long a low phenylalanine diet should be used. Each decision should be made by a doctor.

It is certainly advisable to continue eating foods low in phenylalanine in girls during adolescence and when fertilization and pregnancy may occur. Following a dietary recommendation even a woman with phenylketonuria may give birth to a healthy child. By caring for low levels of phenylalanine, you can avoid its negative effects on the developing fetus.