Phenylketonuria. Phenylketonuria - genetic causes of the disease, symptoms, diagnosis and treatment

Phenylketonuria is a congenital pathology, which is considered genetically determined and is characterized by impaired hydroxylation of phenylalanine, accumulation of the amino acid and its metabolites in physiological fluids and tissues. With a prolonged course and complete absence of treatment, damage to the central nervous system occurs. This disease occurs quite infrequently - out of 10,000 newborns, only 1 baby is born with phenylketonuria. It is noteworthy that in newborns the disease does not have any obvious manifestations, but when phenylalanine enters the child’s body with food, the pathology becomes manifest. This usually happens in the first half of a child’s life (just the time when complementary foods are introduced); later, phenylketonuria leads to severe disturbances in the development of the baby.

Causes of phenylketonuria

According to the medical classification, the disease in question is autosomal recessive, which means that in order to develop clinical signs of phenylketonuria, the baby must inherit one defective copy of the gene from both parents, who, in turn, are carriers of the mutant gene.

Most often, the development of the disease in question is caused by a mutation of the gene encoding the enzyme phenylalanine-4-hydroxylase - this will be classic phenylketonuria type 1, which accounts for 98% of all cases of diagnosing the disease. If there is no treatment, the pathology leads to profound mental retardation.

In addition to the classical form of the disease in question, there is also an atypical one - it proceeds almost identically to the previous one, but is absolutely not amenable to correction even with diet therapy.

Please note:The risk of having a child with phenylketonuria increases sharply in the case of consanguineous marriages.

How does phenylketonuria manifest?

Newborns with this disease do not have any specific clinical manifestations, and only at the age of 2-6 months does the child begin to manifest the disease. As soon as milk protein (breast milk or substitutes for artificial feeding) enters the baby’s body, the first, nonspecific, signs of phenylketonuria appear - lethargy, unmotivated anxiety, hyperexcitability, constant pain, muscular dystonia, convulsive syndrome. One of the earliest signs of the disease in question is persistent vomiting, but it is often perceived as a clinical manifestation of pyloric stenosis.

By the age of six months, the child clearly shows a lag in psychomotor development - for example, the baby becomes less active, at some point ceases to recognize the people around him (even the closest ones), and makes no attempts to sit down or stand on his feet. During this period, the composition of urine and sweat becomes abnormal, which causes their characteristic “mouse”, moldy aroma. Parents often note the appearance of active peeling on the baby’s skin, and.

If children diagnosed with phenylketonuria do not undergo treatment, then they will be diagnosed with microcephaly, only after one and a half years will teeth begin to erupt, a delay in speech development is clearly visible, and by the age of 3, maximum 4, years, profound mental retardation and complete absence of speech are revealed (exception only make up some indistinct sounds).

Children with phenylketonuria have a dysplastic physique; they often have congenital symptoms; they may have autonomic dysfunction and chronic constipation. For such a sick child the following will be characteristic:

upper limbs;
hyperkinesis;
“tailor” pose (lower and upper limbs are strongly bent at the joints);
mincing gait.

All of the above clinical manifestations of phenylketonuria relate to classic form of the disease. At atypical forms The pathology in question will be characterized by increased excitability, tendon hyperreflexia, and severe mental retardation. The disease inevitably progresses and by the age of 2-3 years the child dies.

Diagnostic measures

Diagnosis of phenylketonuria is included in the neonatal screening program, which is carried out to all newborns, without exception.. This test is carried out on days 3-5 of a baby’s life and on day 7 of life if the baby was born premature. The study is carried out by collecting capillary blood; if hyperphenylalanemia is detected, the newborn is sent to a pediatric geneticist for re-examination.

To confirm the diagnosis of phenylketonuria, doctors conduct the following studies:

determine the activity of liver enzymes;
determine the concentration of tyrosine and phenylalanine in the child’s blood;
carry out a biochemical analysis of urine;
prescribed for the brain;
conduct an EEG.

Since the clinical manifestations of the disease in question are nonspecific, doctors must differentiate phenylketonuria from intrauterine infections, intracranial birth trauma of newborns, and disorders of amino acid metabolism.

Please note:Doctors can diagnose a genetic defect in phenylketonuria during pregnancy. To do this, invasive prenatal diagnostics are performed - choriobiopsy, cordocentesis, amniocentesis.

Treatment of phenylketonuria

Unfortunately, there is no specific and effective treatment for the disease in question. The fundamental factor in therapy is adherence to a strict diet, which limits the intake of protein into the patient’s body..

Special feeding formulas have been developed for infants; similar formulas are also available for older children. The basis of the diet is low-protein foods, which include fruits, vegetables and amino acid mixtures. Expansion of the diet can only be allowed upon reaching the age of eighteen - by this period the body’s tolerance to phenylalanine increases.

In addition to diet therapy, doctors can prescribe the following for children with phenylketonuria::

mineral compounds;
anticonvulsants.

Complex therapy should include physical therapy, acupuncture and massage.

Please note:for an atypical form of phenylketonuria that cannot be corrected by diet therapy, doctors prescribe hepatoprotectors and anticonvulsants. This treatment will help alleviate the child’s condition.

Children with the disease in question are constantly registered with a pediatrician; they will definitely need the help of a speech therapist and speech pathologist. Specialists must conduct constant monitoring of neuropsychic status, control the level of phenylalanine in the blood and take electroencephalogram readings.

The possibility of screening for phenylketonuria in the neonatal period allows for early dietary therapy, which prevents the development of cerebral pathological damage and liver dysfunction. If diet therapy was prescribed on time and fully followed, then the prognosis for the baby’s development is quite favorable. If nutritional correction is not carried out, then the prognosis for the disease is extremely unfavorable, even leading to death in early childhood.

Phenylketonuria is a rather complex disease that requires constant monitoring by specialists and the willingness of parents to monitor the child’s nutrition and treatment.

Phenylketonuria was discovered in 1934 by the Norwegian doctor Ivar Asbjorn Felling. A positive treatment outcome was first observed in the UK (at the Birmingham Hospital for Children) thanks to the efforts of a team of doctors led by Horst Bickel in the first half of the 50s of the 20th century. However really big success in the treatment of this disease was noted in 1958-1961, when the first methods of analyzing the blood of infants for the content of high concentrations of phenylalanine, indicating the presence of an illness, appeared.

It turned out that only one gene, called RAS, is responsible for the development of the disease ( phenylalanine hydroxylase gene).

Thanks to this discovery, scientists and doctors around the world were able to identify and describe in more detail both the disease itself and its symptoms and forms. Moreover, completely new, high-tech and modern treatment methods were found and developed, such as gene therapy, which today is a model of effective combat against human genetic pathologies.

Reasons

The cause of the appearance and development of phenylketonuria is a violation of phenylalanine metabolism, which causes the accumulation of toxic substances in the human body. It is reliably known that phenylpyruvic, phenylethylamine, orthophenyl acetate and phenyllactic acids, which in the normal state of the body are practically not synthesized by the body, are found in the blood, urine and other biological fluids, poisoning the central nervous system.

Defects in the normal functioning of the central nervous system can be caused by several reasons:

deficiency of brain neurotransmitters (pleasure hormone - serotonin and catecholamine, responsible for the release of adrenaline and norepinephrine into the blood);
toxic effect of phenylalanine on the human central nervous system;
disorders of protein (amino acid) metabolism;
violation of hormonal balance and hormonal metabolism;
dysfunction of the passage of amino acids through cell membranes.

Classification

There are 3 forms of phenylketonuria.

Let's look at each of the varieties in more detail:

Phenylketonuria type 1 called classic, it is the most common. It is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase gene. The reason is a lack of phenylalanine 4-hydroxylase, due to which there is an adequate transition of phenylalanine to an amino acid called tyrosine. Because of this, phenylalanine begins to gradually accumulate in biological fluids and human tissues. Moreover, the accumulation of phenylalanine metabolic products occurs (due to which toxic damage to the central nervous system occurs).
Phenylketonuria type 2 is an atypical (atypical) form of the disease. Its characteristic features include the location of the gene pathology on the short arm of the fourth chromosome, with a pronounced deficiency of dehydropterin reductase, which causes a certain dysfunction in the restoration processes of tetrahydrobiopterin. All these phenomena do not go away on their own, since at the same time the folic acid fluid in the blood and spinal cord fluid of a person also decreases. As a result, we get certain metabolic barriers to the transition of phenylalanine to tyrosine.
Phenylketonuria type 3 is associated with a deficiency of 6-pyruvoyltetrahydropterin synthase, which often takes part in the main mechanisms for the release of tetrahydrobiopterin from dihydroneopterin triphosphate. Tetrahydrobiopterin deficiency in the human body quite often causes dysfunctions similar to those that appear with type 2 phenylketonuria.

Symptoms

The baby often looks completely normal in appearance. Primary manifestations of the disease can be noticed only at the age of 2 to 6 months.

Symptoms include:

severe weakness and general fatigue of the child;
apathy to what is happening around;
in some situations - vomiting, anxiety for no reason.

At the age of six months, the child already has mental retardation. He learns to sit without assistance quite late (compared to his peers) and begins to walk late. Disturbances in the growth of bone tissue make themselves felt - the skull of such a child lags behind the body in size, and teeth appear later than usual.

Diagnostics

The disease should be diagnosed 4-5 days after birth (or a week for premature babies). They do a blood test - for this, just one drop is enough to saturate a special paper indicator. If the concentration of phenylalanine in the child's blood exceeds 2.2 mg, further testing is required.

In addition to tests for phenylalanine and tyrosine levels in the blood, other methods for determining phenylketonuria:

Guthrie diagnostic test;
Fehling test;
chromatography;
search and study of a mutated gene;
fluorimetry;

Treatment

Previously, it represented restrictions that concerned the use of phenylalanine in food products (the label “contains a source of phenylalanine” is usually found on the packaging of such products). But over time, it became clear that just a balanced diet is not enough to treat phenylketonuria.

The best option is treatment that lowers phenylalanine levels to a safe level. To do this, it is necessary not only to control the child’s nutrition, but also to monitor his mental development.

Diet therapy is by far the most common and effective way to combat phenylketonuria. It provides excluding large amounts of protein foods from the child’s diet- cottage cheese, meat, eggs, legumes, fish, etc. Vegetable or butter is used as a source of fat for patients. No less important in the diet are fruits, vegetables and various juices.

Forecast

The prognosis depends on the intellectual development and age at which treatment of the patient was started.

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Phenylketonuria (PKU) is a disease that is directly related to a violation of amino acid metabolism and leads to damage to the central nervous system. Phenylketonuria predominantly occurs in girls. Often sick children are born to healthy parents (they are heterozygous carriers of the mutant gene).

Consanguineous marriages only increase the number of children born with this diagnosis. Phenylketonuria is most often observed in northern Europe - 1:10000, in Russia with a frequency of 1:8-10000 and in Ireland - 1:4560. PKU is almost never found in blacks.

What kind of disease is this?

Phenylketonuria is a hereditary disease of a group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. If a low-protein diet is not followed, it is accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, manifested, in particular, in the form of impaired mental development (phenylpyruvic oligophrenia). One of the few hereditary diseases that can be successfully treated.

Story

Phenylketonuria was discovered in 1934 by the Norwegian doctor Ivar Asbjorn Felling. A positive treatment outcome was first observed in the UK (at the Birmingham Hospital for Children) thanks to the efforts of a team of doctors led by Horst Bickel in the first half of the 50s of the 20th century. However, really great success in the treatment of this disease was noted in 1958-1961, when the first methods of analyzing the blood of infants for the content of high concentrations of phenylalanine, indicating the presence of the disease, appeared.

It turned out that only one gene, called RAS (phenylalanine hydroxylase gene), is responsible for the development of the disease.

Mechanism of development and causes of the disease

The cause of this disease is due to the fact that the human liver does not produce a special enzyme - phenylalanine-4-hydroxylase. It is responsible for converting phenylalanine to tyrosine. The latter is part of the melanin pigment, enzymes, hormones and is necessary for the normal functioning of the body.

In PKU, phenylalanine, as a result of side metabolic pathways, is converted into substances that should not be in the body: phenylpyruvic and phenyllactic acids, phenylethylamine and orthophenylacetate. These compounds accumulate in the blood and have a complex effect:

disrupt the processes of fat metabolism in the brain;
have a toxic effect, poisoning the brain;
cause a deficiency of neurotransmitters that transmit nerve impulses between cells of the nervous system.

This causes a significant and irreversible decline in intelligence. The child quickly develops mental retardation - oligophrenia.

The disease is inherited only if both parents have passed on a tendency to the disease to the child, and is therefore quite rare. Two percent of people have an altered gene that is responsible for the development of the disease. At the same time, the person remains completely healthy. But when a man and woman, carriers of the mutated gene, get married and decide to have children, the likelihood that the children will suffer from phenylketonuria is 25%. And the possibility that children will be carriers of the pathological PKU gene, but themselves will remain practically healthy, is 50%.

Symptoms of phenylketonuria

Phenylketonuria (see photo) appears in the first year of life. The main symptoms at this age are:

lethargy of the child;
regurgitation;
violations of muscle tone (usually muscle hypotension);
convulsions;
lack of interest in the environment;
sometimes increased irritability;
anxiety;
a characteristic “mouse” smell of urine appears.

Phenylketonuria is characterized by the following phenotypic features: hypopigmentation of the skin, hair, and iris. In some patients, one of the manifestations of the pathology may be scleroderma.

At a later age, patients with phenylketonuria are characterized by delayed psycho-speech development, and microcephaly is often observed. Epileptic seizures occur in almost half of patients with phenylketonuria and in some cases can serve as the first sign of the disease.

Diagnostics

It is important, as we have already noted, to early diagnose the disease, which will avoid its development and lead to a number of irreversible and severe consequences. For this reason, in maternity hospitals, by 4-5 days of life (for full-term newborns), blood is taken for analysis. In premature babies, blood is drawn for phenylketonuria (PKU) on day 7.

The procedure involves taking capillary blood an hour after feeding; in particular, a special form is impregnated with it. A concentration indicating more than 2.2% phenylalanine in the baby’s blood requires sending him and his parents for examination to a medical genetic center. There, further examination and, in fact, clarification of the diagnosis are carried out.

What does phenylketonuria look like: photo

The photo below shows how the disease manifests itself in children and adults.

How to treat phenylketonuria

The only effective method of treating phenylketonuria is considered to be a specially designed diet organized from the first days of life, the principle of which is to limit the phenylalanine contained in food products, for which such foods as are excluded:

cereals,
legumes,
eggs,
cottage cheese,
bakery products,
nuts,
chocolate,
fish, meat, etc.

The therapeutic diet of patients with phenylketonuria consists of specialized products of both foreign and domestic production. Children of the first year of life are shown products that are close in composition to breast milk, these are mixtures such as “Lophenilac” and “Aphenilac”. For slightly older children, such mixtures as “Tetrafen”, “Maxamum-HR”, “Phenyl-Free” have been developed. Pregnant women and older children (after six years) suffering from phenylketonuria are advised to take the Maxamum-HR mixture. In addition to specialized medicinal products, the patient’s diet includes juices, fruits and vegetables.

Timely initiation of diet therapy most often allows one to avoid the development of characteristic clinical manifestations of classical phenylketonuria. Treatment is mandatory until puberty, and sometimes longer. Due to the fact that a woman with phenylketonuria is not able to bear a healthy fetus, special treatment is carried out, starting before conception and continuing until birth, aimed at preventing damage to the fetus by phenylalanine from the sick mother.

Children undergoing treatment should be under the constant supervision of a psychoneurologist and a local pediatrician. At the beginning of treatment for phenylketonuria, phenylalanine levels are monitored weekly; when the levels are normalized, they are switched to once a month during the first year of life, and once every two months in children older than one year.

In addition to diet therapy, doctors can prescribe the following for children with phenylketonuria:

mineral compounds;
nootropics;
B vitamins;
anticonvulsants.

Complex therapy should include physical therapy, acupuncture and massage.

Please note: for the atypical form of phenylketonuria, which cannot be corrected by diet therapy, doctors prescribe hepatoprotectors and anticonvulsants. This treatment will help alleviate the child’s condition.

Phenylketonuria and motherhood

For pregnant women with PKU, it is very important to keep phenylalanine levels low before and throughout pregnancy to ensure a healthy baby. And although the developing fetus may only be a carrier of the PKU gene, the intrauterine environment may have very high levels of phenylalanine, which has the ability to penetrate the placenta. As a result, the child may develop a congenital heart defect, developmental delay, microcephaly and mental retardation are possible. As a rule, women with phenylketonuria do not experience any complications during pregnancy.

In most countries, women with PKU who are planning to have children are advised to reduce phenylalanine levels (usually to 2-6 µmol/L) before pregnancy and monitor them throughout pregnancy. This is achieved by conducting regular blood tests and following a strict diet, and constant supervision by a dietitian. In many cases, once the fetal liver begins to produce PAH normally, the level of phenylalanine in the mother's blood drops, and accordingly it is “necessary” to increase it to maintain a safe level of 2-6 µmol/L.

This is why a mother's daily intake of phenylalanine may double or even triple by the end of pregnancy. If the level of phenylalanine in the mother’s blood is below 2 µmol/l, then sometimes women may experience various complications associated with a deficiency of this amino acid, such as headache, nausea, hair loss and general malaise. If low levels of phenylalanine in patients with PKU are maintained throughout pregnancy, then the risk of giving birth to an affected child is no higher than in those women who do not have PKU.

Prevention

Since phenylketonuria is a genetic disease, its development cannot be completely prevented. Preventive measures are aimed at preventing irreversible severe disorders of brain development through timely diagnosis and nutritional therapy.

Families in which there have already been cases of this disease are recommended to conduct a genetic analysis that can predict the possible development of phenylketonuria in a child.

Consequences and life prognosis

The effect of excessive amounts of phenylalanine on the child’s nervous system leads to persistent psychological disorders. By the age of 4, without proper treatment, children with phenylketonuria are considered weak-minded and physically underdeveloped members of society. They join the ranks of disabled children and the colors of life fade for them.

The life of the parents of a sick child does not sparkle with happiness either. The baby requires constant care, and with limited financial resources this results in a general deterioration in the well-being of the family. The pain experienced by mom and dad from the inability to change the child’s existence for the better is depressing and oppressive, but one cannot despair. Help yourself, help your child pass these tests with fewer losses in love and mercy.

Science is in a hurry, it is making leaps and bounds towards eliminating the disease from the rank of severe. Diagnosis of phenylketonuria in the womb is of great importance, but such a method has not yet been invented. “yet” does not mean “never”, let’s wait and believe

What kind of disease is this?

Story

Phenylketonuria was discovered in 1934 by the Norwegian doctor Ivar Asbjorn Felling. A positive treatment outcome was first observed in the UK (at the Birmingham Hospital for Children) thanks to the efforts of a team of doctors led by Horst Bickel in the first half of the 50s of the 20th century. However, really great success in the treatment of this disease was noted in 1958-1961, when the first methods of analyzing the blood of infants for the content of high concentrations of phenylalanine, indicating the presence of the disease, appeared.

It turned out that only one gene, called RAS (phenylalanine hydroxylase gene), is responsible for the development of the disease.

Mechanism of development and causes of the disease

disrupt the processes of fat metabolism in the brain;
have a toxic effect, poisoning the brain;
cause a deficiency of neurotransmitters that transmit nerve impulses between cells of the nervous system.

This causes a significant and irreversible decline in intelligence. The child quickly develops mental retardation - oligophrenia.

Symptoms of phenylketonuria

Phenylketonuria (see photo) appears in the first year of life. The main symptoms at this age are:

lethargy of the child;
regurgitation;
violations of muscle tone (usually muscle hypotension);
convulsions;
lack of interest in the environment;
sometimes increased irritability;
anxiety;
a characteristic “mouse” smell of urine appears.

Phenylketonuria is characterized by the following phenotypic features: hypopigmentation of the skin, hair, and iris. In some patients, one of the manifestations of the pathology may be scleroderma.

Diagnostics

What does phenylketonuria look like: photo

The photo below shows how the disease manifests itself in children and adults.

How to treat phenylketonuria

cereals,
legumes,
eggs,
cottage cheese,
bakery products,
nuts,
chocolate,
fish, meat, etc.

Timely initiation of diet therapy most often allows one to avoid the development of characteristic clinical manifestations of classical phenylketonuria. Treatment is mandatory until puberty, and sometimes longer. Due to the fact that a woman with phenylketonuria is not able to bear a healthy fetus, special treatment is carried out, starting before conception and continuing until birth, aimed at preventing damage to the fetus by phenylalanine from the sick mother.

In addition to diet therapy, doctors can prescribe the following for children with phenylketonuria:

mineral compounds;
nootropics;
B vitamins;
anticonvulsants.

Complex therapy should include physical therapy, acupuncture and massage.

Phenylketonuria and motherhood

In most countries, women with PKU who are planning to have children are advised to reduce phenylalanine levels (usually to 2-6 µmol/L) before pregnancy and monitor them throughout pregnancy. This is achieved by conducting regular blood tests and following a strict diet, and constant supervision by a dietitian. In many cases, once the fetal liver begins to produce PAH normally, the level of phenylalanine in the mother's blood drops, and accordingly it is “necessary” to increase it to maintain a safe level of 2-6 µmol/L.

Prevention

Families in which there have already been cases of this disease are recommended to conduct a genetic analysis that can predict the possible development of phenylketonuria in a child.

Consequences and life prognosis

Phenylketonuria is a complex genetic disease based on a disorder of amino acid metabolism. As a result, the body does not transform the vital amino acid phenylalanine into tyrosine.

This disease is quite common, and it is detected on average in one case per 8 thousand newborns. Since the body with such a genetic disorder does not receive tyrosine, this causes many pathologies. After all, this substance affects the functioning of the pituitary gland, thyroid and adrenal glands, and also prevents the deposition of fat in the body and reduces appetite.

Phenylketonuria in children was first identified in the 30s of the last century by scientist A. Felling. The first symptoms of the disease appear almost immediately after birth, and its further progression can lead to serious complications, including brain damage, developmental disorders in the child’s psyche and movement, as well as toxic damage to the nervous system.

The causes of phenylketonuria are due to hereditary predisposition. However, the disease is passed on only when both parents are carriers of the altered gene.

This gene is found in only two percent of the world's population, and a person can be absolutely healthy. However, if a man and a woman who are its carriers get married, they can pass it on to their child. Even so, the chance of having a baby with a genetic disorder is only 25 percent.

Also, phenylketonuria can be caused by consanguineous marriage, since in this case the parents may be carriers of a mutated gene that encodes the enzyme phenylalanine-4-hydroxylase. Phenylalanine is excreted very slowly in the body of a sick person, so with its constant intake it affects the nervous system.

If the disease was detected in a timely manner, then the quality and life expectancy of such a child is no different from other people. However, with poor diagnosis and lack of therapy, it is significantly reduced.

Symptoms of phenylketonuria appear in a child immediately after birth. Among them are:

Fatigue and lethargy;
Anxiety;
Lack of interest in the outside world;
Allergic dermatitis and other skin diseases;
Convulsions;
Increased anxiety and irritability;
Regurgitation after eating;
Paleness of the skin;
Impaired muscle tone;
Specific smell of urine.

At an older age, symptoms of phenylketonuria manifest themselves in the form of delayed mental and physical development, and during an examination, doctors may detect microcephaly.

In addition, patients have specific external features. They have light porcelain skin, white hair and blue eyes. If the disease is detected in the first days after birth, then with properly prescribed treatment and diet, the child can maintain his chances of a healthy life.

A newborn with this pathology is born absolutely healthy, and the condition worsens later because the body lacks the substance tyrosine. Therefore, if the disease is detected early, the brain is not affected, and the child grows similarly to his peers.

In the case where phenylketonuria was not established after birth, and the child consumed foods high in phenylalanine for a long time, irreversible consequences occur. When it accumulates in body fluids and tissues, toxic poisoning of the nervous system and brain occurs, and in severe cases, idiocy can develop.

After two years of age, a child may experience the following symptoms:

Urinary incontinence;
Epileptic convulsions and spasms;
Hand trembling;
Reduction in skull size;
Stiff movements caused by increased muscle tone;
Deformation of the ear shells;
Behavioral disorders.

In the absence of a diet in the treatment of a patient, mental abnormalities may develop, which become the cause of disability.

The disease can have different symptoms depending on the form. There are three types in total, of which the first is the most common. It is treatable through dietary restrictions, and type 2 and 3 disease can be fatal.

Phenylketonuria is usually detected on the fifth day after birth. To do this, all newborns are examined before discharge, and a blood test is taken after feeding. It is applied to special test strips, after which an analysis is carried out that makes it possible to identify this pathology.

To confirm the diagnosis, a blood and urine test is performed, which will show a noticeable increase in phenylalanine levels. To prevent symptoms of the disease, the child is prescribed immediate treatment and a special diet with limited protein foods, which allows him to subsequently lead a normal and healthy life.

This genetic disease can also be diagnosed through a visual examination and medical history. However, this method was used several decades ago; today the most proven methods are laboratory molecular genetic diagnostics.

Treatment of phenylketonuria is lifelong, but the most important period is childhood under 18 years of age. At this time, the nervous system develops most actively, and the accumulation of phenylalanine in the body can lead to toxic damage.

However, only a special diet will allow a person to lead a healthy and fulfilling life until old age. Doctors advise such patients to continue to follow the diet throughout their lives in order to improve its quality.

In the first year of life, the child should eat special mixtures with a sufficient amount of essential amino acids, vitamins and microelements. These include Phenyl Free, XP Analog, Afenilak, MIDmil PKU.

A doctor can prescribe a specific milk formula only based on test results. In addition to artificial milk formulas, the mother should breastfeed the baby to strengthen his immune system, but the dosage of milk should be selected by a specialist based on the tests and examinations performed.

For children after one year of age, in addition to complementary feeding, Izifen, XP Maxamade and XP Maxamum, as well as P-AM can be used for nutrition. These products do not contain phenylalanine, so they do not cause disruption to the functioning of internal organs and are easily digested.

A diet for adults and children with phenylketonuria is prescribed immediately after genetic analysis. In this case, the diet should be rich in plant proteins, vitamins and microelements. Fully permitted products include potatoes, sugar, vegetable oils, as well as green and black tea.

Prohibited products include:

Meat and fish dishes, as well as poultry;
Dairy products: sour cream, yogurt, cheese, milk and cottage cheese;
Chicken eggs;
Flour and pasta;
Peas and other legumes;
Corn;
Chocolate and nuts;
Gelatin.

Allowed foods that must be consumed in limited quantities include bread, butter, vegetables and fruits, rice, honey, and sorbets. It is also important that the human body receives foods rich in tyrosine.

This substance is necessary for the full functioning of the body, and it is found in large quantities in mushrooms and other plant products. This treatment of phenylketonuria will allow the patient to live a long, fulfilling life.

In recent years, specialists have developed a drug containing plant phenylalanine hydroxylase. It allows you to control the content of phenylalanine in organs and tissues, preventing it from accumulating in large quantities.

Phenylketonuria is a dangerous and complex genetic disease, so it is not treated with folk remedies. However, it is possible to use herbal remedies and infusions to improve overall health.

They can relieve irritability and anxiety in newborns, as well as compensate for the lack of vitamins and microelements that are associated with severe dietary restrictions. Patients can use mint, chamomile, calendula, lemon balm, hawthorn, and motherwort. At the same time, nuts and dried fruits can strengthen the immune system. The use of all medications and herbs must be discussed with your doctor.

Phenylketonuria in infants and newborns cannot be prevented, since this disease is caused by a genetic disorder. However, to prevent the dangerous consequences of the disease, early diagnosis and subsequently a careful diet are necessary.

If this disease is detected in one child in the family, it is necessary to carry out perinatal diagnosis of the disease during subsequent pregnancy, and medical genetic consultation is also possible.