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Phenylketonuria– a hereditary disease associated with damage to certain genes in the human DNA structure, as a result of which the correct processing of enzymes in the body is disrupted.

Diet for phenylketonuria

Nowadays, a test for phenylketonuria is done on absolutely all babies as part of a test carried out in the maternity hospital in the first week of the child’s life. This is very important because, if the disease is detected in time and immediately prescribe the baby a strict diet, then in the future he can live a full life.

In order to understand what diet is prescribed to a child with phenylketonuria and why, we will briefly describe how the body of such a child functions.

Improper functioning of enzymes in the patient’s body leads to the accumulation of the acid phenylalanine, which during the normal breakdown process should be converted into the amino acid tyrosine. An excess of phenylalanine occurs in the human body. Where does it come from in the body?

Phenylalanine is an amino acid found in all proteins. A Proteins are an essential part of nutrition all living beings on the planet. They are necessary for the life and development of the body; in addition to phenylalanine, proteins contain many other amino acids necessary for the body, for example, glycine, tryptophan, alanine and others. Accordingly, a person cannot completely stop eating protein, but a patient with phenylketonuria will not survive if he eats like a healthy person.

Therefore, the diet of a patient with phenylketonuria should include those foods that contain proteins, but the amount of pheninalanine is reduced.

The amount of phenylalanine in the body that is safe for the health of each individual person is very individual. This indicator is called "phenylalanine tolerance". 2-4 mg% is the indicator for infants in the first year of life.

So, in order for the tolerance indicator to always remain within the safe norm, patients with phenylketonuria are prescribed a low-protein diet. Less protein means less phenylalanine.

During the first year of life, phenylalanine tolerance in an infant diagnosed with phenylketonuria is measured very often, usually once every two weeks. Based on the results, the baby’s diet is also adjusted.

Adults sometimes comply for life strict diet, in which too many products are in the “Cannot” column and too few in the “Can” column. For babies, special ones have been developed and are still being developed. mixtures without phenylalanine.

Mixtures for phenylketonuria

PKU formulas for infants are a substitute breast milk without phenylalanine in the composition.

In the second year of life, the baby should be switched to a diet with an increased amount of protein and, again, a reduced amount of phenylalanine. The baby grows and develops - he needs protein. Formulas are prepared for such children on hydrolyzed protein without phenylalanine.

It is worth saying that therapeutic nutrition for phenylketonuria and diet are prescribed only by the attending physician, once again - here a lot depends on the specific indicators of tolerance to phenylalanine.

PKU medicinal mixtures are not the only source of nutrition, they are included in the baby’s menu along with the main meals prescribed by the doctor.

For children under one year old, there are such mixtures as “Phenyl Don”, “Aphenilak”, “Lufenalak”, 2MD Mil PKU 0”. Essentially, these are breast milk substitutes that do not contain phenylalanine, they are enriched with other amino acids, carbohydrates and fats, vitamins and minerals.

Some newborns diagnosed with phenylketonuria have a stable level of phenylalanine in the blood; such babies can be fed with mother's breast milk and do not need nutritional therapy.

It is very important that the daily dose of formula for children with phenylketonuria should not be given to the child at one time; the food must be distributed throughout the day. In addition, it is important to know that the child’s body may not accept the therapeutic nutrition - he may begin to vomit or have diarrhea. In this case, the best solution would be to reduce the dose of food for two to three days. And the most correct way out is consult a specialist.

Complementary feeding for phenylketonuria

Of course, complementary foods are introduced extremely carefully. You can offer the baby first juices from fruits and berries– plum, pear, apple are suitable. You can start giving your child juices from three months, gradually increasing the daily dose.

At 4 months the child can be given fruit puree, at 5 months – vegetable purees. Here you can follow the order of “feeding” vegetables, as for a healthy child.

Nutrition for children with phenylketonuria includes refusal meat purees and purees with milk.

Starting from five months, you can offer your child jelly and porridge from protein-free cereals, sago You can also try dairy-free porridge, as for children with

Phenylketonuria (PKU) is a genetic disease characterized by disorders of phenylalanine metabolism. Occurs with a frequency of 1 in 8,000-15,000 newborns. There are four forms of PKU; There are over 400 different mutations and several metabolic phenotypes of PKU.

Definition, pathogenesis, classification

Phenylketonuria is a hereditary aminoacidopathy associated with impaired phenylalanine metabolism, resulting in mutational blockade of enzymes leading to persistent chronic intoxication and damage to the central nervous system with a pronounced decrease in intelligence and neurological deficit.

Of primary importance in the pathogenesis of classical PKU is the inability of phenylalanine hydroxylase to convert phenylalanine to tyrosine. As a result, phenylalanine and the products of its abnormal metabolism (phenylpyruvic, phenylacetic, phenyllactic acids) accumulate in the body.

Other pathogenetic factors include disturbances in amino acid transport across the blood-brain barrier, disturbances in the cerebral pool of amino acids with subsequent disruption of the synthesis of proteolipid proteins, disturbances in myelination, and low levels of neurotransmitters (serotonin, etc.).

Phenylketonuria I (classic or severe) is an autosomal recessive disease caused by a mutation in the phenylalanine hydroxylase gene (long arm of chromosome 12); 12 different haplotypes were identified, of which about 90% of PKU are associated with four haplotypes. The most common mutations in the phenylalanine hydroxylase gene: R408W, R261Q, IVS10 nt 546, Y414C. The disease is based on a deficiency of phenylalanine 4-hydroxylase, which ensures the conversion of phenylalanine to tyrosine, which leads to the accumulation of phenylalanine and its metabolites in tissues and physiological fluids.

A special group consists of atypical variants of PKU, in which the clinical picture resembles the classical form of the disease, but in terms of development indicators, despite dietary therapy, no positive dynamics are noted. These PKU variants are associated with deficiencies of tetrahydropterin, dehydropterin reductase, 6-pyruvoyltetrahydropterin synthase, guanosine 5-triphosphate cyclohydrolase, etc.

Phenylketonuria II (atypical) is an autosomal recessive disease in which the gene defect is localized in the short arm of chromosome 4 (section 4p15.3), characterized by deficiency of dehydropterin reductase, leading to impaired restoration of the active form of tetrahydrobiopterin (cofactor in the hydroxylation of phenylalanine, tyrosine and tryptophan) in combined with a decrease in blood serum and cerebrospinal fluid folates The result is metabolic blocks in the mechanisms of conversion of phenylalanine into tyrosine, as well as precursors of neurotransmitters of the catecholamine and serotonin series (L-dopa, 5-hydroxytryptophan). The disease was described in 1974.

Phenylketonuria III (atypical) is an autosomal recessive disease associated with deficiency of 6-pyruvoyltetrahydropterin synthase, which is involved in the synthesis of tetrahydrobiopterin from dihydroneopterin triphosphate (described in 1978). Tetrahydrobiopterin deficiency results in disorders similar to those in PKU II.

Primapterinuria is an atypical PKU in children with mild hyperphenylalaninemia, whose urine contains large quantities Primapterin and some of its derivatives are present in the presence of normal concentrations of neurotransmitter metabolites (homovanillic and 5-hydroxyindoleacetic acids) in the cerebrospinal fluid. An enzymatic defect has not yet been identified.

Maternal PKU is a disease accompanied by a decrease in the level of intelligence (to the point of mental retardation) among the offspring of women suffering from PKU and not receiving a specialized diet in adulthood. The pathogenesis of maternal PKU has not been studied in detail, but the leading role of chronic intoxication of the fetus with phenylalanine and the products of its abnormal metabolism is assumed.

R. Koch et al. (2008) during an autopsy of the brain of an infant whose mother had PKU (without adequate control over the level of phenylalanine in the blood), found a number of pathological changes: low weight brain, venticulomegaly, hypoplasia white matter and delayed myelination (no evidence of astrocytosis); chronic changes V gray matter the brain was not found. It is assumed that disturbances in the development of white matter of the brain are responsible for the formation of neurological deficits in maternal PKU.

IN practical purposes in the medical genetic centers of the Russian Federation, a conditional classification of PKU is used, based on the levels of phenylalanine in the blood serum: classical (severe or typical) - phenylalanine level above 20 mg% (1200 µmol/l); average - 10.1-20 mg% (600-1200 µmol/l), as well as the level of phenylalanine 8.1-10 mg%, if it is stable against the background physiological norm protein intake in the diet; mild (hyperphenylalaninemia that does not require treatment) - phenylalanine level up to 8 mg% (480 µmol/l).

Clinical manifestations and diagnostics

At birth, children with PKU I appear healthy, although more often they have a specific habitus ( blonde hair, blue eyes, dry skin). In the absence of timely detection and treatment of the disease during the first two months of life, they develop frequent and intense vomiting and increased irritability. Between 4 and 9 months, a pronounced lag in psychomotor development becomes apparent.

Patients are distinguished by a specific ("mouse") smell skin. Severe neurological disorders are rare in them, but features of hyperactivity and autism spectrum disorders are characteristic. With absence timely treatment IQ level is< 50. Seizures, characteristic of children with severe intellectual deficits, often debut before the age of 18 months (they may disappear spontaneously). At an early age, seizures often take the form of infantile spasms, subsequently transforming into tonic-clonic seizures.

From diagnostic methods(in addition to determining the levels of phenylalanine and tyrosine in the blood), the Felling test, Guthrie test, chromatography, fluorimetry, and search for a mutant gene are used. EEG and MRI studies are widely used.

EEG reveals abnormalities, mainly in the form of a pattern of hypsarthymia (even in the absence of attacks); Single and multiple foci of spike and polyspike discharges are typical.

MRI findings are usually abnormal regardless of treatment/untreated PKU: T2-weighted image shows increased signal intensity in periventricular and subcortical white matter posterior sections hemispheres. Although children may have cortical atrophy, there are no detectable signal changes in the brainstem, cerebellum, or cortex. The described changes in MRI studies do not correlate with IQ level, but depend on the level of phenylalanine in the blood.

With phenylketonuria II, clinical symptoms appear in patients at the beginning of the second year of life. Despite dietary therapy prescribed after detection higher level levels of phenylalanine in the blood during the neonatal period, a progressive course of the disease is noted. There is a pronounced mental retardation, signs of increased excitability, convulsions, muscular dystonia, hyperreflexia (tendon) and spastic tetraparesis. Often by the age of 2-3 years it occurs death.

The clinical picture of phenylketonuria III resembles that of PKU II; it includes the following triad of symptoms: profound mental retardation, microcephaly, spastic tetraparesis.

Prevention

Necessary timely detection PKU using appropriate screening tests in maternity hospitals, as well as genetic counseling. To prevent fetal damage, expectant mothers with PKU are advised to strictly follow a low phenylalanine diet to maintain phenylalanine levels before conception and throughout pregnancy.< 4 мг% (< 242 мкмоль/л). Потомство матерей с легкой ФКУ (фенилаланин < 6,6 мг% или < 400 мкмоль/л) не страдает .

New treatments

Currently, several types of alternative therapy for PKU are being intensively developed. Among them: the so-called “large neutral amino acids” method ( large neutral amino acids), enzyme therapy with phenylalanine hydroxylase, phenylalanine ammonia lyase; treatment with tetrahydrobiopterin (Sapropterin).

There is evidence of successful treatment of patients with moderate or mild PKU using tetrahydrobiopterin (10-20 mg/kg/day).

D. M. Ney et al. (2008) showed that the use of dietary glycomacropeptides in PKU (with limited subsidy) essential acids) reduces the concentration of phenylalanine in the blood plasma and brain, and also contributes to adequate physical development. An experimental treatment for PKU is the introduction of the phenylalanine hydroxylase gene directly into the affected liver cells. In the Russian Federation, these methods are not currently used.

Diet therapy

It is the therapeutic diet that is most effective in preventing intellectual deficits in severe (classic) PKU. Highest value has the age of the patient at the time of starting diet therapy (IQ decreases by approximately 4 points for each month from birth to the start of treatment). Approaches to the dietary management of PKU in different countries differ somewhat, but their principles themselves are consistent.

Dietary restrictions are not indicated for infants whose blood phenylalanine levels are in the range of 2-6 mg% (120-360 µmol/l). The basis of the diet for PKU is the prescription of diets low in phenylalanine, the source of which is protein foods. This diet is prescribed to all patients in the first year of life. It should be prescribed to children with diagnosed PKU before 8 weeks of age; its use at a later age is much less effective.

General characteristics of the diet for PKU. The therapeutic diet for PKU is represented by three main components: therapeutic products (mixtures of amino acids without phenylalanine), natural foods (selected), starch-based low-protein foods.

Foods of animal origin with a high protein content (meat, poultry, fish, dairy products, etc.) are excluded from the diet in PKU. Breast milk is limited in the first year of life (previously it was completely abolished). Among formulas (breast milk substitutes), preference is given to those containing less protein.

Diet therapy in the first year of life. Equivalent replacement for protein and phenylalanine is made using the “portion” method of calculation: 50 mg of phenylalanine is equal to 1 g of protein (for adequate replacement of products for protein and phenylalanine). Since phenylalanine is an essential amino acid, to provide normal development a child with PKU must meet the minimum need for it. During the first year of life permissible quantity phenylalanine ranges from 90 to 35 mg/kg child.

For children with PKU under the age of 12 months, the following medicinal products of foreign and domestic production are currently available in the Russian Federation: Aphenilac (Russian Federation), MD mil PKU-0 (Spain) and HR Analogue LCP (Netherlands-UK).

Diet therapy begins when the level of phenyl-alanine in the blood is from 360-480 mmol/l and above. It is the indicator of its content in the blood that is considered the main criterion for diagnosis and evaluation of the effectiveness of treatment.

Introduction of complementary foods and additional products nutrition. After three months, the diet begins to expand through the use of juices (fruit and berries), prescribing them with 3-5 drops, with a gradual increase in volume to 30-50 ml, and by the end of the first year of life - up to 100 ml. Basic juices: apple, pear, plum, etc. Fruit purees are prescribed, increasing their amount in the diet in the same way as that of the administered juice.

In the period from 4-4.5 months, the first complementary foods are introduced into the diet in the form of vegetable puree prepared independently (or canned fruits and vegetables for feeding infants - the latter without the addition of milk). Next, the 2nd complementary food is sequentially prescribed - porridge (10%) from ground sago or protein-free grains. Dairy-free cereals can be used industrial production based on corn and/or rice flour, containing no more than 1 g of protein per 100 ml of ready-to-eat product.

After 6 months, you can introduce jelly and/or mousses (protein-free), which are prepared using amylopectin swelling starch and fruit juice, a protein-free drink with milk flavor Nutrigen or a low-protein milk drink PKU “Loprofin” into the diet.

From 7 months, a child with PKU can receive low-protein Loprofin products, for example, spirals, spaghetti, rice or protein-free noodles, and from 8 months - special protein-free bread.

Diet therapy in children over one year of age. Features of the preparation of therapeutic diets for patients older than 12 months are the use of products based on mixtures of amino acids without phenylalanine and/or protein hydrolysates with a small amount of it (exceeding that in products for children with PKU in the first year of life), which contain complexes of vitamins, macro - and microelements. The proportion of protein equivalent gradually increases as children grow, and the quota of fat and carbohydrate components, on the contrary, decreases (later completely eliminated), which subsequently makes it possible to significantly expand the patient’s diet due to selected natural products.

The amount of phenylalanine that children different ages is allowed to be obtained through nutritional means when following a therapeutic diet, gradually reduced from 35 to 10 mg/kg/day.

In diet therapy for children over one year old, it is customary to use specialized medicinal products (based on mixtures of amino acids without phenylalanine): Tetrafen 30, Tetrafen 40, Tetrafen 70, MD mil PKU-1, MD mil PKU-3 (Spain).

The products of “Nutrition” (Netherlands-Great Britain) are distinguished by their special variety and proven quality over the years: P-AM 1, P-AM 2, P-AM 3, Isifen (ready-to-use product), as well as XP Maxamade and XP Maxamum with neutral and orange flavors.

It is recommended to make a gradual transition from a specialized formula (for infants) to products for older children gradually (over 1-2 weeks). In this case, the volume of the previous mixture is reduced by 1/4-1/5 part and an amount of the new product equivalent in protein is added. It is preferable to give the new medicinal product (the amount of which is calculated depending on body weight and age-appropriate amounts of phenylalanine) to the child in fractions, 3-4 times a day, offering to wash it down with juices, water or other drinks.

The range of products for children with PKU is significantly limited. During the period of maximum strict adherence to the diet (infancy and early childhood), the use of specialized medicinal products is mandatory. The purpose of their use in PKU is to replace protein sources in full compliance with the standards for consumption of basic nutrients by children (taking into account age and specific clinical situation). Some medicinal products contain polyunsaturated fatty acid(omega-6 and omega-3) in a ratio of 5:1-10:1; such food sources are preferred.

From special products dry amino acid mixtures are used, devoid of phenylalanine, with a subsidy of protein equivalent - its artificial analogue (in quantities corresponding to the age of patients with PKU).

Other low-protein foods available in the Russian Federation for dietary therapy of PKU include sago, special bread, vermicelli and other types of therapeutic foods. These medicinal products (amylophens) are based on starches that do not contain indigestible carbohydrates and minerals. They are represented by pasta, cereals, sago, special flour, bakery products, instant products for making jelly, mousse, etc. Vitamin supplements increase nutritional value low protein foods.

There are also foreign-made low-protein products, Loprofin (Netherlands-Great Britain), based on starches (wheat, rice, potato, corn, etc.), including pasta, cereals for making porridges, special types of bread (tapioca, wheat and rice starch), cookies, crackers, crackers, as well as flour, various desserts, seasonings and sauces with an attractive taste, a significant range of drinks (including milk, cream and coffee substitutes), etc.

Calculation and preparation of diet. The following formula is used: A = B + C, where A is the total protein requirement, B is protein natural food, C - protein provided by medicinal foods.

Enrichment of diet with tyrosine. Some researchers suggest fortifying a low-phenylalanine diet with tyrosine, although there is no statistically significant evidence for better intellectual development when following the PKU diet.

Organoleptic properties diets. The taste properties of almost all artificial medicinal products for patients with PKU are specific. To mask organoleptically unpleasant qualities therapeutic diet for PKU, various flavoring additives (devoid of protein) and special formulations are used. The sweetener aspartame should not be used as it breaks down into phenylalanine, methanol and aspartate.

Monitoring the effectiveness of diet therapy. It is based on regular monitoring of phenylalanine content in the blood (it should be in the average range of 3-4 mg% or 180-240 µmol/l).

In the Russian Federation, the following scheme is used to monitor the content of phenyl-alanine in the blood of patients with PKU: up to 3 months of age - once a week (until stable results are obtained) and then at least 2 times a month; from 3 months to 1 year - 1 time per month (if necessary - 2 times per month); from 1 year to 3 years - at least 1 time every 2 months; after 3 years - once every 3 months.

The nutritional status of the patient, his physical and intellectual, emotional and speech development. If necessary, medical specialists are involved in examining the patient, psychological and defectological testing and a number of studies are carried out (ultrasound internal organs, ECG, EEG, MRI of the brain, general blood and urine analysis, blood proteinogram, according to indications - glucose, cholesterol, creatinine, ferritin, serum iron, etc.). General analysis blood is carried out with a frequency of 1 time per month, biochemical research blood - according to indications.

Nutrition for infectious diseases. In case of intercurrent diseases with hyperthermia, intoxication and/or dyspeptic symptoms, it is possible to temporarily stop diet therapy (for several days) with the replacement of medicinal products with natural ones (with a low protein content). Upon completion acute period disease, the medicinal product is reintroduced into the diet, but over a shorter period than at the beginning of diet therapy.

Discontinuation of diet therapy. The age at which diet therapy can be discontinued in patients with PKU continues to be controversial.

There is evidence that when diet therapy was discontinued at 5 years of age, one third of children with PKU experienced a decrease in IQ level by 10 points or more over the next 5 years. In patients over 15 years of age, breaks in diet therapy are often accompanied by progressive changes in the white matter of the brain (according to MRI).

Diet therapy for patients with classic PKU should be lifelong.

In the Russian Federation, in accordance with the law, special dietary therapy must be provided to the patient free of charge, regardless of the degree of disability and the patient’s age. Strict, mandatory dietary treatment PKU is usually carried out until the age of 18, followed by an expansion of the diet. Adult patients are advised to stop consuming high protein foods animal origin (the total amount of protein should not exceed 0.8-1.0 g/kg/day).

Literature

Blau N. et al. Phenylketonuria // Lancet. 2010. No. 376. P. 1417-1427.
Medical nutrition for hereditary disorders exchange (E70.0-E74.2). In the book: Clinical Dietetics childhood/ Ed. Borovik T. E., Ladodo K. S. M.: “MIA”. 2008. pp. 330-383.
Harding C.O. et al. Advances and challenges in phenylketonuria // J. Inherit. Metab. Dis. 2010. V. 33. P. 645-648.
Lord b. et al. Implications of resolving the diagnosis of PKU for parents and children // J. Pediatr. Psychol. 2008. V. 33. P. 855-866.
Koch R. et al. Neuropathology of a 4-month-old infant born to a woman with phenylketonuria // Dev. Med. Child. Neurol. 2008. V. 50. P. 230-233.
Van Spronsen F.J. et al. Large neutral amino acids in the treatment of PKU: from theory to practice // J. Inherit. Metab. Dis. 2010. V. 33. P. 671-676.
Harding C.O. New era in treatment for phenylketonuria: pharmacologic therapy with sapropterin dihydrochloride // Biologics. 2010. V. 9. P. 231-236.
Ney D.M. et al. Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria // J. Nutr. 2008. V. 138. P. 316-322.
Singh R.H. et al. BH4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up // J. Inherit. Metab. Dis. 2010. V. 33. P. 689-695.
Trefz F.K. et al. Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria // Drugs Today. 2010. V. 46. P. 589-600.
Webster D. et al. Tyrosine supplementation for phenylketonuria // Cochrane Database Syst. Rev. 2010. V. 8: CD001507.

V. M. Studenikin,
T. E. Borovik, Doctor of Medical Sciences, Professor
T. V. Bushueva, Candidate of Medical Sciences

SCCD RAMS, Moscow

Phenylketonuria is a rare hereditary disease associated with a disorder of amino acid metabolism. PKU primarily affects nervous system, which affects mental development.

The basis of the disease is the patient’s body’s inability to break down the enzyme phenylalanine, which we get by eating protein foods.

As a result, compounds accumulate in the tissues, damaging not only the nervous system, but also the brain.

But of all the inherited diseases, phenylketonuria is the only one that can be completely prevented. If PKU is administered to a child from birth special diet. Life expectancy and its quality will in no way differ from others healthy people. But if a child develops mental disabilities, his life expectancy is noticeably reduced.

In this article we will analyze the symptoms and etiology of the disease.

Phenylketonuria is classified according to ICD 10 E70.0 into two types:

I (classical);
II and III (considered a pathology).

The cause of the development of the disease may be the child inheriting one copy of a defective gene from parents who are its carriers. Often the result of a gene mutation is the encoding of the enzyme phenylanine-4-hydroxylase and located on long shoulder 12 chromosomes. This is inherent in type I phenylketonuria, which occurs most often in 98% of cases.

With phenylketonuria types II and III, they are the same as those of the first, but unlike it, it cannot be corrected with diet.

There is an increased likelihood of the disease in marriages between prisoners and close relatives.

It is difficult to diagnose phenylketonuria at the birth of a child, since the main manifestations are noticeable later. However, if appropriate symptoms are present, doctors are able to make this diagnosis in the maternity hospital. But often the first signs of the disease appear two or six months after birth.

Symptoms of phenylketonuria: the baby becomes lethargic, uninterested in his environment, there is a violation muscle tone, child . Convulsions appear, severe skin rashes, vomit. These symptoms may subside for some time, after which they reappear.

At six months, a child may already have developmental delays. An inability to focus the gaze on specific objects appears; the child no longer recognizes his parents and does not respond to colored toys. It is necessary to begin treatment immediately, otherwise the retardation will only progress.

Physical development is not as severely impaired as mental development. The baby's head may be slightly smaller than normal. In a standing position, children spread their legs wider than usual, their heads and shoulders are lowered. When walking, they sway slightly, taking small steps. In a sitting position, tuck your legs under you, which is typical for muscle tone.

Externally they are distinguished by blond hair and completely white skin with blue eyes. High sensitivity to influence ultraviolet rays, so children often get covered in a rash.

Among the main pronounced manifestations are a “mouse” smell, sometimes, but with age they may disappear. Other symptoms: increased sweating, blueness of legs and arms, presence of dermatitis, trembling, arterial hypotension, impaired coordination of movements.

A one-year-old baby expresses his emotions with his voice, his facial expressions are impaired, and he does not understand his parents. Once you reach the age of three or older, PKU symptoms only increase. There is an increase in excitability, fatigue, impairment mental disorder, mental retardation. The patient's condition will only worsen if proper treatment is not provided.

Diagnostics

Diagnosis of phenylketonuria in medical centers The examination allows us to determine whether parents are carriers of the PKU gene.

Nutrition

It is very important to stick to the diet until you are 16-18 years old. In the future, also monitor the amount of protein you consume.

Before becoming pregnant, a woman who has previously been diagnosed with PKU should again eliminate foods containing phenylanine from her diet. Restrictions should be adhered to until the end of breastfeeding.

All necessary for the body amino acids are contained in specialized products for medicinal purposes, which are a lactose-free powdered, dry mixture.

Nutrients replacing protein foods should include:

free amino acids (for example cystine, tryptophan, taurine, tyrosine);
peptides (milk proteins digested by enzymes).

The most common mixtures are: Mdmil-PKU-0, Afenilak, Analogue-SP. They are produced in the form of a powder, which must be diluted with expressed breast milk, in proportions as indicated in the instructions. Complementary foods are added gradually, and are monitored by a doctor, over a period of 2 to 5 days.

For children, regardless of age, all foods containing protein are excluded. Products such as: vegetables, fruits, oils plant origin and starch products are allowed for consumption. A growing body needs proper nutrition.

Per kilogram of weight per day, 120 mg of tyrosine is required. Therefore, children diagnosed with PKU must obtain missing amino acids from additional sources. A lot of intake of vitamins B1 and B6, C, iron, folic acid, magnesium and calcium is necessary for the body. The number of calories must be increased by 30% compared to the usual norm for a healthy child.

Parents of a patient with the syndrome must seriously monitor their diet and accurately calculate the amount of phenylanine consumed. It is better to do this with the help of scales.

Natural products are divided into 3 groups, according to the amount of phenylanine they contain:

Red – products prohibited for consumption;
Orange – has restrictions;
Green – permitted products.

In addition to these lists, there are products that are manufactured by industry, but are also a diet for phenylketonuria:

artificial - with low level squirrel;
ready-made fruit purees.

Disability

On August 9, 2016, an order of the Ministry of Labor of the Russian Federation came into force, which made adjustments to the criteria and classifications used when testing children with phenylketonuria medical examination. Thanks to this, the assignment of disability has become more accessible.

These changes were made taking into account the monitoring of decisions medical institutions on the establishment of disability in 2015. The basis is not only the form and severity of the disease, but also the age of the child. Until the age of 14, he cannot independently maintain a diet and control the disease.

In addition to the adjustments made, the list was clarified chronic pathologies in children, in which and if the patient is recovering. The state, in turn, must comply with certain obligations, such as medicines.

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My feet are sweating! Horror! What to do? And the solution is very simple. All the recipes we give are tested primarily on ourselves and have a 100% guarantee of effectiveness. So, let’s get rid of sweaty feet.

There is much more useful information in a patient's life story than in all the encyclopedias in the world. People need your experience - “the son of difficult mistakes.” I ask everyone, send recipes, don’t be sorry for advice, they are a ray of light for a patient!

ABOUT medicinal properties pumpkin Ingrown toenail I am 73 years old. Sores appear that I didn’t even know existed. For example, a nail suddenly began to grow in on your big toe. The pain prevented me from walking. They suggested surgery. In “Healthy Lifestyle” I read about pumpkin ointment. I peeled the pulp from the seeds, applied it to my nail and bandaged it with plastic so that the juice […]

Fungus on the feet Fungus on the feet Pour hot water into a basin (the hotter the better) and rub with a washcloth in the water laundry soap. Keep your feet in it for 10-15 minutes to steam them properly. Then clean your soles and heels with a pumice stone, and be sure to trim your nails. Wipe your feet dry, dry and lubricate them with nourishing cream. Now take the pharmaceutical birch […]

My foot hasn't bothered me for 15 years. Corns on my foot. For a long time I was bothered by a corn on my left foot. I cured it in 7 nights, got rid of the pain and began to walk normally. You need to grate a piece of black radish, put the pulp on a cloth, tie it tightly to the sore spot, wrap it in cellophane and put on a sock. It is advisable to do the compress at night. To me […]

The young doctor prescribed his grandmother's recipe for Gout, heel spurs I am sending you a recipe for the treatment of heel spurs and bumps near the big toe. A young doctor gave it to me about 15 years ago. He said: “I can’t write out a sick leave for this, it’s not allowed. But my grandmother was treated for these troubles like this...” I took the advice […]

Let's start with gout, which is mainly caused by a disorder metabolic processes. Let's listen to what Vinnitsa doctor D.V. NAUMOV says about padagre. We treat gout according to Naumov Gout “Healthy lifestyle”: There are a lot of questions about the dissolution of salts in the joints. You claim that table salt, which we consume internally, has nothing to do with insoluble salts such as urates, phosphates and oxalates. And what has […]

On the advice of Antonina Khlobystina Osteomyelitis At the age of 12, I fell ill with osteomyelitis and almost lost a leg. I was admitted to hospital in in serious condition and was operated on the same day. He was treated for a whole month, but was deregistered only after 12 years. I was cured after all with a simple folk remedy, which was suggested to me by Antonina Khlobystina from Chelyabinsk-70 (now [...]

Phenylketonuria (phenylpyruvic oligophrenia) - Hereditary disease a group of enzymopathies associated with impaired metabolism of amino acids, mainly phenylalanine. Accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, manifested in the form of impaired mental development.

Types of phenylketonuria

There are types I, II and III phenylketonuria, which differ in terms of manifestations and treatment methods.

Phenylketonuria type I is the most common classical form of the disease (98% of cases). The occurrence of this form of phenylketonuria is based on a deficiency of the enzyme phenylalanine-4-hydroxylase, which ensures the conversion of the amino acid phenylalanine into tyrosine.
Phenylketonuria type II is much less common (1-2%) and is characterized by a deficiency of the enzyme dihydropteridine reductase. In this form of the disease, severe mental retardation and convulsions predominate. Type II phenylketonuria progresses very quickly and leads to the death of a child at 2-3 years of age.
Phenylketonuria type III is caused by a deficiency of tetrahydrobiopterin. The course of this type of phenylketonuria resembles the course of type II disease, and also includes a decrease in brain volume (microcephaly).

Causes of phenylketonuria

The main causes of phenylketonuria are as follows:

Consanguineous marriages increase the likelihood of having a child with phenylketonuria;
Change (mutation) of a gene localized on chromosome 12;

Symptoms and signs of phenylketonuria.

Babies born with phenylketonuria are no different from healthy newborns. Their appearance during the first few weeks of life is completely normal. Let's say more, all children with this disease are born on time. At the same time, they note normal weight bodies, as well as growth corresponding to their age. Their only difference is considered to be very fair skin, blond hair and blue eyes. Agree, children with blue eyes and fair skin can be completely healthy.
The very first symptoms of this pathology can make themselves felt just a few weeks after the birth of the baby. It all starts with vomiting, which in most cases is mistaken for a symptom of pyloric stenosis, that is, a condition in which there is a narrowing of the outlet of the stomach. Obvious signs of phenylketonuria appear in most cases only at two to six months. It is at this age that parents begin to notice the baby’s obvious retardation not only physically, but also in mental development.
Another manifestation of this disease is considered to be excessive sweating, as a result of which a special specific smell emanates from the child. Most often it is compared to the smell of a mouse or the smell of mold. There are other signs of this disease that make themselves felt a little later. These include both excessive irritability and lethargy, drowsiness, constant tearfulness, lack of interest in the entire world around us, and causeless anxiety. Very often such children have seizures, delayed teething, reduction in head size. Children suffering from phenylketonuria often experience various skin changes such as dermatitis, eczema, and so on.
The longer this pathology goes unnoticed, the more the physical structure of the body changes. So, for example, after a few months a child may develop a specific posture. One of these poses is the “tailor” pose. With it, the child’s upper limbs are constantly bent at the elbows, but lower limbs The baby keeps it tucked in. A constant sign of this disease is hand tremors.
The fact that the child is also lagging behind in his mental development can be noticed after six months of his life. Such children cannot make sounds; they begin to hold their heads up, sit up, crawl, and stand on their own legs very late.

Diagnosis of phenylketonuria

To diagnose phenylketonuria, the level of phenylalanine and its derivatives in the blood, urine and cerebrospinal fluid, as well as the level of phenylalanine hydroxylase, dihydropteridine reductase or tetrahydrobiopterin synthetase, are determined.
In recent years, in order to early diagnosis Phenylketonuria patients carry out mass examination (screening) of newborns. To make a diagnosis of phenylketonuria, blood is taken from all newborns in maternity hospitals (from the heel, 1 hour after feeding the baby) for examination: from a full-term baby on the 4th day of life, from a premature baby on the 7th day. If the concentration of phenylalanine in the blood is more than 2.2 mg%, parents and the child are called to the genetic center to examine and re-test the child’s blood.
There may be cases when the content of phenylalanine in the blood does not exceed high levels, but slightly exceeds the norm (4-5 mg%). Such children are monitored during the first month of life and repeated checks of phenylalanine levels in the blood are carried out.
In a child with phenylketonuria, the level of phenylalanine in the blood can reach 20-30 mg%.
There are also genetic methods for diagnosing a gene defect in phenylketonuria, which examine blood cells (lymphocytes), fetal amniotic fluid cells (amniocytes) or cells of the outer germinal membrane (chorion). These examination methods make it possible to identify the mutant gene and accurately determine the form of phenylketonuria.

Basic principles of diet for phenylketonuria

The main and only method of treating phenylketonuria today is diet therapy. A specific diet for phenylketonuria should be followed for a long time (more than 10 years from the date of confirmation of the diagnosis). Treatment with diet begins when the level of phenylalanine in the blood is 15 mg% or higher.
Phenylalanine (PA) is an exogenous essential amino acid essential for normal height and development, which enters the body with food. In patients with PKU, the dose of phenylalanine is limited to an amount that depends on the individual's tolerance to PA.
A low-protein diet allows you to maintain the concentration of FA in the patient’s blood serum at a level that is safe for the central nervous system. This level is determined for each age group. For infancy, FA should be at a level of 2-4 mg%; the level of FA concentration in the patient’s blood serum is checked once a week until the 6th month of life.
Phenylalanine is found in all foods containing protein. Therefore, foods high in protein should be excluded from the diet of patients with phenylketonuria. However, it is impossible to completely eliminate the entry of phenylalanine into the body due to its significant role in the process of growth and development.
In order for phenylalanine levels to be at a certain “safe” level, the diet must consist of medicinal drugs with low or no phenylalanine content (which meet the protein requirement by 70-80%), and enough natural foods to satisfy the body’s protein needs, mineral components, vitamins and phenylalanine, taking into account the basic age needs of the child.
The only one effective method Treatment of patients with PKU is specialized diet therapy from the moment of diagnosis. The diet for PKU is:

Reducing the dose of phenylalanine according to individual phenylalanine tolerance, which means reducing the dose of natural protein in the daily diet
Providing an appropriate dose of protein for normal development (additional protein without phenylalanine) from PKU medical food products
Providing an appropriate dose of energy using special low-protein foods
Provide adequate doses of vitamins, macro- and microelements - mainly from PKU preparations and other sources.

Diet with limited (reduced) phenylalanine content in to a large extent limits the choice of natural food products:

Prohibited	Allowed in strictly limited quantities	Allowed
Meat and meat products(meat and sausage products) Poultry and poultry products Cereal products: bakery products, flour, porridge, cereals, pasta, confectionery Leguminous plants: beans, peas, soybeans Seeds: corn, poppy, flaxseed Nuts Chocolate Dairy products: cheese, yogurt, cottage cheese, sour cream, ice cream Milk - the exception is a small amount, which is an addition to the diet in the first months of life Gelatin Aspartame	Vegetables Potato Fruits Jams, preserves Oil Margarine Sherbets Low protein baked goods Pasta and flour products made from low phenylalanine flour Tapioca Sago groats	Sugar Vegetable oils Mineral water Fruit candies Lollipops Thickeners (carrageenan, pectin, guar gum, locust bean gum, agar, arabic gum)

In patients with PKU, the amount of protein consumed from natural foods cannot exceed established norm. In this regard, in young children and older people, the predominant part of the need for protein, i.e. about 80% should be repaid with mixtures that do not contain phenylalanine, enriched with mineral ingredients.
Diet baby with PKU is based on mixtures (preparations) without phenylalanine, which are the main sources of protein, vitamin, micro- and macroelements. Breast milk and infant formula supplement this diet with phenylalanine, which is essential for growth.
The amount of PKU drug, breast milk or formula should be systematically adjusted depending on individual phenylalanine tolerance, as well as the needs of the growing body. During the first year of life, phenylalanine tolerance changes rapidly, constantly decreasing, and therefore the concentration of phenylalanine in the blood must be monitored at certain intervals and the diet modified.
Starting from the second year of life, the therapeutic amino acid mixture PKU without phenylalanine is gradually replaced by mixtures without phenylalanine with an increased protein content. The composition of these mixtures is designed taking into account the needs of basic nutrients healthy children in appropriate age groups, with the exception of phenylalanine: only a mixture of amino acids ("protein equivalent") in combination with vitamins and minerals.
The required amount of phenylalanine-free protein enters the body from low-energy drinks: fruit juices, fruit and vegetable juices. Such a change in diet and regimen can affect amino acid metabolism. Optimal use of free amino acids from the mixture for the synthesis of one’s own protein is possible only by consuming the appropriate amount of calories at one time in the daily diet, since every synthesis process in the human body is carried out using energy.
Due to the fact that phenylalanine-free mixtures contain few calories, and the diet must be balanced, i.e. meet certain ratios of fat and carbohydrates (the main sources of energy) in such a way as to fully satisfy daily requirement body in energy, it becomes advisable to enrich daily ration other high-energy food products. This was made possible thanks to the presence on the market large quantity specialized low-protein and partially phenylalanine-free products.
The daily dose of PKU mixture depends on the child’s age, body weight, general condition health and individual daily phenylalanine tolerance. It is very important that the recommended daily amount of the mixture is not given in one dose, e.g. in the morning. This method of delivering the mixture may lead to fluctuations in amino acid balance or symptoms of drug intolerance. The daily dose of the mixture should be divided into 3-4 doses throughout the day. The drug should be taken with meals.
Daily intake of phenylalanine from foods should be limited to such an amount that controlled level the concentration of phenylalanine in the blood serum did not exceed the “safe for the central nervous system” level, i.e. 2-4mg/dl, this is the individual daily tolerance of phenylalanine. In order to fully meet the needs of a child with phenylketonuria, and maintain an acceptable level of natural protein and phenylalanine consumed from foods, everything should be food products measure and weigh, and choose foods with the lowest phenylalanine content.
Given the fact that the diet of patients with PKU should include limiting the dose of phenylalanine to an amount safe for the central nervous system, it is very important to simultaneously ensure the supply of the main nutritional ingredients: protein, carbohydrates, fats, as well as vitamins, micro- and macroelements, energy and fluid volume according to the recommendations for certain age groups.

Causes of an increase in the level of concentration of phenylalanine in the blood serum of a child

Very often, an increase in the concentration of phenylalanine in a child’s blood serum means that the amount of phenylalanine consumed by the child significantly exceeds the recommended daily dose. It can also be caused by a problem with the use of the PKU drug. Chronic lack of energy, as well as a lack of protein, accelerate the process of destruction of the body's own proteins (catabolic processes).
The destruction of proteins and an increase in the concentration of phenylalanine can be caused by an infectious process that occurs with an increase in body temperature, vomiting, diarrhea, decreased appetite, surgical operations(intensification of catabolic processes, increased energy needs). In such cases, the amount of energy entering the body should be increased.
During a child’s illness, you should pay attention to the amount of calories consumed, since energy deficiency is the main reason for the acceleration of protein catabolism, and as a result, the level of phenylalanine increases. For infections, energy intake should be increased by 20–30%. At high temperature it is necessary to increase the amount of energy by 12% for every 1 degree of temperature. If you have diarrhea or vomiting, you should abandon the PKU diet for 1-2 days, and gradually return to it after recovery.
If a child gains rapid weight, there may be a need for an additional portion of food or medication. Inattention to these needs and failure to comply with basic dietary requirements can negatively affect the level of phenylalanine in the patient's blood.
Parents should constantly update their knowledge about PKU and use it in their daily diet practices. Teaching a child the rules proper nutrition, parents should emphasize the importance of systematic meals and eating only approved foods. The child needs to be systematically explained in accessible form the need to avoid high-protein foods. It is also important that the child can refuse treats from peers and be able to identify similarities and differences in food choices.
Based on website materials.