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4 . 2020

Nutrition and orphan diseases


Diagnosis and treatment of orphan (rare) diseases is an important problem of modern pediatrics due to multivarious clinical signs and severe course of this pathology. Orphan diseases are associated with accumulation, absence or insufficient synthesis of one or several metabolites in the organism. The absence of early diagnostics and treatment of patients with such diseases leads to bad prognosis. A diet is the main treatment method of many orphan diseases. A diet must be personalized and base on thorough examination of nutritional status. Individual diet therapy promotes an improvement of patient's status and enhances an effect of other forms of treatment for compensation of metabolic disorders, decrease of complication risk and increase of life quality. The article summarizes the experience of treatment of children with orphan diseases in the Department of Pediatric Gastroenterology, Hepatology and Nutrition of Federal Research Centre for Nutrition, Biotechnology and Food Safety. 444 patients with inherited disorders of carbohydrate metabolism, lipid metabolism and more rare diseases (tyrosinemia, lysosomal acid lipase deficit, fructosemia, urea cycle disturbances, α1-antitrypsine insufficiency etc.) have been evaluated in the Department since 2008. The results of the examination and treatment of children with glycogen storage diseases (n=131), fructosemia (n=18), inherited disturbances of lipid metabolism (n=118) and other rare diseases are represented in the paper. The monitoring of nutritional status can help to correct therapy depending on character and severity of pathological process for benign course of the disease.

Keywords:orphan diseases, diet therapy, glycogen storage disease, nutritional status

Funding. The research was carried out at the expense of the subsidy for the implementation of the state task.

Conflict of interests. The authors declare no conflict of interests.

Acknowledgements. Authors are grateful to staff of Research Centre for Medical Genetics and Hereditary Metabolic Diseases Laboratory for support in genetic evaluation of patients with orphan pathology.

For citation: Strokova T.V., Bagaeva M.E., Zubovich A.I., Pavlovskaya E.V., Taran N.N., Tin I.F., Matinyan I.A., Dremucheva Т.А., Kutyreva Е.А., Vasil'eva E.A. Nutrition and orphan diseases. Voprosy pitaniia [Problems of Nutrition]. 2020; 89 (4): 193–202. DOI: (in Russian)


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SCImago Journal & Country Rank
Viktor A. Tutelyan
Full Member of the Russian Academy of Sciences, Doctor of Medical Sciences, Professor, Scientific Director of the Federal Research Centre of Nutrition, Biotechnology and Food Safety (Moscow, Russia)
Medicine today

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