Treatment of phenylketonuria. Prices, reviews, ratings
Phenylketonuria - what kind of disease is it?
The disease was first described in 1934 by the Norwegian physician and biochemist I.A. Felling. The doctor was the first to notice the connection between the pathology and mental retardation, after which he began to study the disease in detail. It is thanks to his research that today it is possible to detect phenylketonuria immediately after the birth of a child. As a rule, liquid chromatography (HPLC) is used for this; some clinics also use the Guthrie test. Statistics show that every 10,000 babies are susceptible to the disease. At first, it has no clinical manifestations, so it is detected presymptomatically (before symptoms appear).
Signs of phenylketonuria
Symptoms of the disease begin to appear several weeks after birth. At first, the baby looks completely healthy, but after some time, severe vomiting appears. In the period from 2 to 6 months, a delay in physical and mental development is noted: the child is not active, does not try to get up, does not recognize loved ones. Also, the main signs include increased sweating, convulsions, lethargy, tearfulness, skin rashes. Dermatitis, peeling skin, eczema are often observed.
Children with phenylketonuria begin to sit and walk later. Their teeth erupt only after one and a half years. In addition, the patient has: an unsteady gait, tremors of the limbs and a characteristic posture in which the arms and legs bend at the joints. Speech delay is noted, and by the age of 3-4 years, children stop talking altogether. In some cases, the development of the disease can lead to the death of the child.
Phenylketonuria: forms and types
- Phenylketonuria I is the most common type of the disease, which is associated with a change in the gene of the 12th chromosome. This is exactly the case described above, when the formation of phenylalanine-4 hydroxylase is disrupted.
- Phenylketonuria II is associated with a gene disorder in the 4th chromosome. In this case, the enzyme dihydropteridine reductase, also responsible for the transformation of phenylalanine into tyrosine, ceases to be produced. Such pathologies are less common - 1:100,000 times.
- Phenylketonuria III is an even rarer type, in which there is a deficiency of the enzyme 6-pyruvoyltetrahydropyridin synthase. It is observed in 1 child out of 300,000.
Is phenylketonuria inherited?
Cases in which the disease is hereditary are extremely rare, but it is possible. This occurs when both parents have the altered gene. At the same time, each of them remains completely healthy in appearance and has no characteristic signs of the disease. But the children of such a couple will have a 25% chance of developing phenylketonuria, and a 50% chance of becoming carriers.
Phenylketonuria in children: diagnostics
Conducting tests and analyses for the presence of the disease is mandatory and is part of the screening program that is carried out on all newborns. For full-term babies, the study is performed on the 3rd-5th day of life, and for premature babies - on the 7th. To do this, a sample of capillary blood is taken from the child, and if any deviations from the norm are detected, additional examinations are carried out by a pediatric geneticist.
To confirm the established diagnosis, a test is performed for the amount of enzymes (phenylalanine, tyrosine), a biochemical urine analysis, a study of the activity of liver enzymes, etc. The child is examined by a neurologist, an MRI and EEG of the brain are performed.
Genetic abnormalities can also be found during pregnancy during invasive prenatal diagnostics.
Phenylketonuria: treatment
Despite ongoing research and the search for optimal methods of combating the disease, a cure for phenylketonuria has not yet been found. The only remedy used today is diet therapy. With its help, doctors adjust the amount of protein in the child's body so that it corresponds to age and physical activity. The diet must be followed until the end of puberty. After that, it is gradually expanded by introducing a limited amount of prohibited products. During this period, it is imperative to monitor the level of phenylalanine and assess the child's neuropsychiatric state.
In some forms of the disease, treatment with drugs containing tetrahydrobiopterin is possible - a component of the very same missing enzyme.
When carrying out therapeutic actions, it is imperative to monitor the amount of phenylalanine in the blood. For each age, this value is different (measured in μmol/l):
- At birth and in the first years of life - 120-240;
- At preschool age - no more than 360;
- For a schoolchild - no more than 480;
- For a high school student - no more than 600.
Phenylketonuria: products and nutrition
To prevent the toxic effects of phenylalanine, animal proteins are excluded from the child's diet. If this is done immediately, the brain will not be damaged, and developmental delays will not occur. But if you start restricting protein later, the changes that have already occurred in the nerve cells will be irreversible.
When breastfeeding, the mother needs to strictly control the amount of milk that the baby drinks. To do this, it needs to be expressed and given to the child in the amounts that are allowed for his age. You can supplement the baby with mixtures without phenylalanine.
You can start feeding children with phenylketonuria with berry and fruit juices. Then introduce puree without milk, cereals without protein and porridge from corn or rice flour into the diet.
Diet therapy consists of a complete refusal (or limited consumption) of the following products: meat, fish, bread and rolls, eggs, sausage, nuts, cottage cheese, cereals, chocolate. The consumption of vegetables and fruits is also regulated in accordance with the amount of phenylalanine.
Treatment of the disease is accompanied by taking vitamins, phosphorus, iron and calcium preparations. It is recommended to take medications to improve brain function, do massage and exercise.
Phyllenketonuria patients should follow these tips:
- Keep track of the food eaten daily and count the amount of protein consumed.
- For accurate control of phenylalanine, you should use kitchen scales, spoons and measuring cups that will help measure food by grams.
- For convenience, you can use a food diary or a special program for a PC or smartphone.
- In some cases, a strict diet may not be necessary, which means that a person will be able to eat some foods containing a small amount of phenylalanine (flour, rice, bread, pasta). You can also diversify your dishes with seasonings and spices. However, the patient's diet must be approved by a doctor.
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