Food sold out: patients with phenylketonuria are not given food
In at least eight regions, patients with phenylketonuria are not given their prescribed specialized nutrition — amino acid mixtures. This was told to Izvestia by the All-Russian Society of Phenylketonuria. A break in taking special meals leads to irreversible health consequences — it can negatively affect IQ levels and lead to the development of mental retardation, doctors warn. About where food is not provided and how refusals in the regions are explained, see the Izvestia article.
Where they didn't give out the mixture
Patients with phenylketonuria have experienced interruptions in the delivery of amino acid mixtures in eight regions, the All-Russian Society of Phenylketonuria told Izvestia. People with this genetic disease (characterized by metabolic disorders of the amino acid phenylalanine) should not eat meat, fish, dairy products, eggs, legumes and most cereals. Therefore, they need therapeutic nutrition for life.
According to the patient organization, problems with delivery were recorded in the Nizhny Novgorod, Chelyabinsk, Vologda, Samara regions, as well as in Moscow, Bashkiria, Chuvashia and the Krasnoyarsk Territory. Specialized meals for adults should be purchased from the regional budget, and for children — from the federal budget, and in the absence of a number of items in the relevant list, from the budget of the subject of the federation.
The frequency of occurrence of this disease in Russia is on average one case per approximately 7 thousand newborns. But statistics vary significantly depending on the region: from one person per 3,000 in Karachay-Cherkessia to one per 18,000 in Tuva. Currently, about 5 thousand patients with this diagnosis live in Russia, of which about 3.5 thousand are children, the Society of Patients with Phenylketonuria clarified.
In Bashkiria, doctors stopped prescribing amino acid mixtures to minors with phenylketonuria back in the fall of 2024, but at first they began to give out a much smaller amount than before.
"Instead of 33 cans, patients were given only three to six packs, and then they stopped," Almira Murdasheva, chairman of the regional public organization Phenylketonuria Bashkortostan, told Izvestia. — According to doctors, the region has not purchased the required number of mixtures for the second half of 2024. At the end of December, we had data that almost a third of all our patients had not received the formula in the fourth quarter.
Izvestia has at its disposal a response from the prosecutor's office of the city of Salavat, which states that after contacting one of the patients, they conducted an inspection and submitted a submission on the elimination of violations to the chief physician of the city hospital.
According to Almira Murdasheva, in December 2024, patients in the republic were given food again, but this did not last long — interruptions began again in March 2025. After that, representatives of the public organization and patients sent letters to the local Ministry of Health, the head of Bashkiria, Radiy Khabirov, and the President of Russia with a request to help solve the problem and provide patients with phenylketonuria with therapeutic nutrition.
They pointed out that one can of the mixture costs 7 thousand rubles, it is only enough for five days. Therefore, not all patients can buy medical food themselves, and then, even with the help of the prosecutor's office, seek compensation for this through the courts. Patients also complained that at the end of 2024, when food was provided again, they were unable to receive the full amount that was not provided during the supply outage.
Currently, they do not give amino acid mixtures to children with this disease in the Nizhny Novgorod region, said Gemma Rogova, chairman of the regional branch of the All-Russian Society of Phenylketonuria.
Patients sent appeals due to interruptions in the provision of medicines to the Prosecutor General's Office, the regional Prosecutor's Office and the Ministry of Health, as well as to the Commissioner for Children's Rights in the Nizhny Novgorod region.
"While the proceedings are underway, they are calling, inviting them to the prosecutor's office," the appeals say. — There is no mixture, but there are facts of deception in the dates of its receipt. The whole situation was described to us in such a way that Nizhny Novgorod pharmacy had not signed a contract to extend the supply of the mixture and it would no longer be available. We were told that the Ministry of Health has 18 million rubles to provide, but they allocated ten times less."
How to give therapeutic nutrition
The main principle of phenylketonuria treatment is a strict diet with the exclusion of foods with a high content of phenylalanine from the diet, recalled Zarema Sakhtaryok, head of the medical and genetic consultation and a geneticist of the highest category at the Maikop City Clinical Hospital.
— Phenylalanine cannot be completely eliminated, but its amount should correspond to the level that the patient's body absorbs. Otherwise, an amino acid deficiency or, conversely, its toxic accumulation is possible," the expert emphasized. — Protein restriction leads to a deficiency of other vital amino acids and protein in general.
The specialist noted that taking amino acid mixtures ensures normal growth and development in children, and helps maintain the quality of life in adult patients.
Therapeutic mixtures prevent the toxic effects of phenylalanine on the brain and nervous system, avoid body weight deficiency, as well as neurological and other complications, she added. A neurologist at Medline Service, Valentin Denchik, emphasized that the accumulation of phenylalanine in patients with phenylketonuria can negatively affect IQ levels and lead to the development of mental retardation.
According to the federal law on State Social Assistance, children under the age of 18 who are recognized as disabled have the right to receive specialized medical nutrition products free of charge, Zarema Sakhtariek recalled.
— The mixtures that are provided to children must be included in the list approved by the government. Then their purchase is carried out at the expense of the federal budget. But reporting on the need and the amount needed for its purchase should be provided by the regions," the doctor noted. — And if the mixtures are not on the list approved by the government, they are purchased at the expense of the regional budget.
Elena Balabanova, head of the Society of Patients with Phenylketonuria, recalled that adult patients with disabilities should be provided with therapeutic nutrition free of charge — according to a government decree on providing medicines to the population and medical institutions.
— In this regulatory legal act, in the "Categories of diseases" section, it is stated that patients with phenylketonuria are shown protein-free foods, — the expert noted.
Also, according to her, the regions provide payments to parents of children with phenylketonuria and patients with this disease for the purchase of food. The subjects set their size independently.
— For example, in Moscow, parents of children are allocated 12.3 thousand, adults — 27.6 thousand, — said Elena Balabanova.
Izvestia sent requests to the regional Ministry of Health with a request to clarify how many patients with phenylketonuria they have registered, how much special nutrition they purchased in early 2025, and how satisfied the need for it is.
The Moscow Department of Health told Izvestia that in the capital, all patients with phenylketonuria who sought medical help were provided with specialized medical nutrition products in full.
They also asked to send the data of patients who were not given therapeutic nutrition. Izvestia forwarded this request to the Society of Patients with Phenylketonuria.
Переведено сервисом «Яндекс Переводчик»
