Phenylketonuria is an inherited metabolic disease. It consists in an abnormal transformation of one of the amino acids - phenylalanine. A proper diet is very important in the treatment of PKU. Find out what is the definition of phenylketonuria and what are its symptoms.

Contents:

  1. Phenylketonuria - definition
  2. Phenylketonuria treatment
  3. Phenylketonuria - diet
  4. Phenylketonuria - phenylalanine ban

Phenylketonuriais a hereditary disease, so you cannot catch it. People with phenylketonuria may emit a characteristic "mousy" smell. A child may be born sick when both the father and mother suffer from this disease or are carriers of it. The probability that this will happen is 25 percent. The same are the chances that a child will be born he althy, and a half and a half will not suffer by itself, but will become a carrier of the disease. On the other hand, if only one parent is affected by PKU, the child will certainly be he althy. Currently, phenylketonuria can be detected by newborn screening.

Phenylketonuria - definition

Phenylketonuriais a congenital disease and its progression is rapid and causes irreversible changes. Therefore, it is extremely important to detect it as early as possible. Phenylketonuria is the abnormal change of one of the amino acids phenylalanine. It builds up in excess in the body and damages the brain, even causing severe mental retardation. The disease is accompanied by neurological symptoms: convulsions, severe muscle tension and tremors, and behavioral disturbances.

In Poland and in many other countries, the tests for this disease are tested for children in the third day of life, and the test is repeated after two weeks. If the disease is revealed in the first few weeks of life and adequate nutrition is implemented immediately, the baby will develop properly.

Phenylketonuria treatment

There is no cure for it. You can only prevent body poisoning and brain damage by following an appropriate, verystrict diet . The child must follow it until the brain slows down the pace of development, i.e. until the age of 12-14 years. Then you can restrict your nutrition a bitliberalize. Doctors, however, come to the conclusion that a person suffering from phenylketonuria should follow, more or less strictly, a diet appropriate for this ailment throughout his life. This applies especially to women who become pregnant with phenylketonuria - if they have stopped following the diet earlier, they should return to it during this time. Increased levels of phenylalanine in their blood can cause harmful substances to enter the baby's bloodstream and cause permanent brain damage.

Phenylketonuria - diet

A strict diet must be commissioned by a specialist in the treatment of phenylketonuria to determine what amounts ofphenylalaninecan be safely delivered to the patient's body. For this to happen, regular and frequent blood tests of the amino acid level are essential. Typically, a child under the age of three will be tested weekly, then every two weeks, and monthly when they reach seven years of age.

Phenylketonuria - phenylalanine ban

Food consumed by children suffering from phenylketonuria must contain only small amounts of phenylalanine (small amounts of it are necessary for proper development) - an amino acid that the body is unable to convert. Therefore, you should eliminate all meat products, fish, eggs, cheese, milk and its products, as well as bread and many other flour products.

Deficiencies of nutrients contained in these products are supplemented with special preparations containing the necessary amino acids, vitamins and mineral s alts. Details must be worked out by a nutritionist for meals to be properly balanced and tasty at the same time. Since the diet of patients with phenylketonuria must be modified depending on the he alth condition and age of the child, its proper use requires constant and frequent consultations with a doctor and a dietitian.

Category:

Genetic diseases