The problems of providing specialized nutrition and drugs for patients with rare diseases are currently one of the most discussed by medical specialists in various fields. These issues are especially relevant in light of the expansion of neonatal screening, which started in the Russian Federation in 2023, by expanding the list of rare diseases. The review highlights the current foreign practice of providing for certain categories of patients, primarily, children in need for long-term, sometimes lifelong use of specialized health food products. There is also considered the current situation in the Russian Federation, and the possibilities of domestic production of this category of food products. Currently, patients are provided with vital medical nutrition. The article discusses a number of problems associated with providing children suffered from hereditary and chronic pathologies with specialized nutrition, and first of all, these are patients identified by advanced neonatal screening. From the moment the diagnosis is established to the initiation of pathogenetic diet therapy, a certain time passes, sometimes, several months, which for patients with a high risk of metabolic crises (hereditary metabolic diseases) can be critical and, if untreated, lead to death. To solve these and other problems it is proposed to consider the possibility of centralized provision of specialized medical nutrition products to infants and young patients, attracting state charitable funds for the prompt supply of medical nutrition to patients who need it, the feasibility of optimizing the domestic system for covering the costs of specialized medical nutrition products. for patients with various pathologies who need them, regardless of the status of “disabled”.

The databases of The Rare Disease State Report Card, European Medicines Agency, PubMed, Consultant Plus, RSCI were used to search for material in the review.