This disease is inspired by the fact that if it does not identify the newborn in time, it is fraught with a violation of his mental and physical development. MirSees will tell readers about the symptoms, the causes of the occurrence of pathology and existing methods of diagnosis and treatment.
What is phenylketonuria?
With a given disease, the inability of the body is traced to a faithful way to split the amino acid of phenylalanine, so the tissues are accumulated by substances that poison the brain and the nervous system. Such children are in the future developing small numbers, in other words - mental retardation, idiocy, so the diseases were given and other definition - phenylpyrovinograde oligophrenia. Modern diagnostic methods allow to identify the disease at an early age in the kids, so when making certain measures, you can grow and educate healthy. Save the newborn brain manages, observing a special diet, which will be discussed later. For a long time, the disease studied Dr. Falling from Norway, who described it in 1934. For the efforts and contribution to medicine of this doctor, the disease received the second name - Fethulling disease. In the fifties of the last century, doctors from England, working in a children's hospital, found ways to treat. And in the period from 1958 to 1961, the Gastri technique was actively introduced, allowing early to identify the increased content of phenylalanine in the blood.
Scientists found that the suffering from the FCU improperly shows activity one of the liver enzymes responsible for the transition of phenylalanine to another acid - Tyrosine. The number of people born with this pathology in different countries of the world is significantly different. Statistics show that in Russia one child from 10,000 appears with this disease. In the UK, two times more born with FCU, but in Africa there is almost no given illness. In girls, such hereditary problems are detected more often than that of boys. If both parents have defective genes, the child can be born sick. Changed genes found in 2% of people, while they are quite healthy. But if there are a man and a woman who have genes with mutations, and then create a family, then the risk of birth they have a patient kid is 25%. This type of inheritance was called autosomal-recessive.
Causes of occurrence
Scientists allocate the following reasons that increase the risk of pathology at the child:
- Mutation of a gene located on the 12th chromosome. This leads to the deficiency of the enzyme phenylalanine-4-hydroxylase, without it, the normal transformation of phenylalanine in tyrosine is impossible, this leads to the accumulation of other phenylalanine derivatives, destructively affecting the nervous brain cells and cells.
- Nearby marriage.
As phenylketonuria manifests itself?
Currently, in genetic centers, you can conduct a special examination that will show whether the parents have a violation in genes in the case of suspicion.
In Russia in 1993, an order of the Ministry of Health was signed in 1993, according to which all children in the maternity hospital are subjected to neonatal screening, allowing me to reveal phenylketonuria early and other hereditary diseases. For this, from the heel of a newborn three hours after the feeding procedure take some blood. If the child is a bottom, then this is done on the fourth day after birth, but at the premature little later - on the seventh. Then the test form with inflicted blood is sent to the laboratory, where the necessary analysis is done during the day. The results are fixed in a toddler card with a special stamp. And if there are suspicions of this hereditary disease, the child and parents give a referral to a further examination in the medical and genetic center.
Additional research is carried out:
- in serum and dry stain;
- DNA diagnostics;
- co-program;
- sweat test.
Parents should know: the earlier the disease is diagnosed, the greater the chance to completely prevent the further development of the disease, changes in the brain.
Recommendations for treatment
So far, in Russia, diet therapy remains the only effect of treatment. Pharmacologists are trying to create drugs that will allow without a diet to control the amount of phenylalanine in the blood. Successes in their work are, but drugs on sale will appear no earlier than six years.
Scientists continue to look for new methods of dealing pathology.
- There are high hopes for promising genotherapy, because cured changed gene can get rid of the problem.
- Attempts to use phenylalaninaliasis (plant enzyme) so that it participates in the splitting of phenylalanine in the human body.
- Try to enter directly into the cells of the liver phenylalanninehydroxylase gene.
In our country, so far the sick children are strictly limiting the diet from birth before the occurrence of puberty (it is 16-18 years old). For the development and growth of such patients, several doctors are necessarily observed, especially the pediatrician and neurologist. Constantly adjusted the number of proteins coming with food so that it matches the loads and age.
There are also forms of FCU, which can be treated with tetrahydrobiodin. It is part of a specific enzyme that is lacking in the body in this disease.
About nutritional phenylketonuria
To protect the brain and nerve cells of the child from the harmful influence of phenylalanine derivatives, should be completely removed from the diet of animal proteins. If this is done in the first weeks of the newborn life, the brain will remain in integrity, but if the time is lost, it will not be possible to completely eliminate the changes that happened, it will only be possible to suspend further deterioration.
Readers Our site may have a reasonable question: and how the baby will grow without amino acids contained in proteins? And these acids will come to the baby in special medical products. Most often it is dry mixes. They are issued free to parents in genetic centers.
Breasts get such mixes that are cleaned of lactose.
The composition of protein products includes:
- Already split milk proteins;
- Amino acids in free form (Taurine, Tyrosine, tryptophan, histidine, cystine).
For example, it can be a mixture «Apolylak», «Phenyl froth 1», «Lofenalak», as well as «Aponti», «Minafen», «CIMRAN», «P-AM» (and figures), «Isifene» (this is ready to use the product).
Such powder mixtures should be brewed with boiled water or a previously written breast milk woman.
It is allowed to give breast milk to the baby, but then his mother will have to comply with a special diet.
When a child reaches preschool and school age, he can not give ordinary protein products. Fruits, Vegetables, Vegetable Oils, Starch Products, Showless Circles.
When you make a menu for the day, you use specific tables that show phenylalanine standards for a certain age.
Children give a vitamin and mineral complex, in which there is necessarily pyridoxine, thiamine, riboflavin, folic acid, magnesium, calcium, iron.
There are special tables in which all products are divided into three groups:
- Green list - they are allowed to eat without restrictions;
- Orange list - can be used, but in small quantities;
- Red List - These products are completely excluded from the diet (eggs, meat, fish, cottage cheese, nuts).
Two more groups of products are available:
- Ready-made fruit puree.
- Artificial Low Blocked Products - Pasta, Bread, Cookies Designed for Diet Power.
The child will always take on an analysis of the blood of an empty stomach (in the morning) to determine the number of phenylalanine in it:
- up to three-month age - a weekly control;
- from 3 to 12 months - monthly;
- from a year to three years - enough once every two months;
- then it is allowed to donate blood once in three months.
It should be remembered that it is impossible to drink carbonated drinks, especially with phenylalanine (aspartame). Be sure to read the composition of the drugs in front of them, sometimes in them also includes aspartame.
Sometimes medicines that improve cerebral circulation are prescribed, such as nootropyl, phenotropyl, cerebrolysin, encephol. To improve microcirculation, pentoxifillain (Trental) is written out.
Children recommended massage, gymnastic exercises, healing physical education.
This genetic disease develops very quickly, can lead to irreversible changes, as a result of which the child can become a disabled person, growing fat down. But if the diagnosis is made in the first weeks of life and is observed by a specially developed diet without phenylalanine, the development of the disease will cease - the child will grow healthy, will receive an education, profession. Such people have their own family, they can be born normal children.
