АК

А. К. Марданова

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НВ

Н. В. Лукина

Perinatal Institute

ЛП

Л. П. Назаренко

Russian Academy of Sciences

СС

С. С. Храмихина

СА

С. А. Матулевич

ТП

Т. П. Жукова

Ivanovo Research Institute of Motherhood and Childhood named after VN Gorodkov

С. В. Виноглядова

Ф. М. Байрамгулов

В. В. Михалъчук

Е. В. Шелкова

Yaroslavl State Medical Academy

РВ

Р. В. Магжанов

Bashkir State Medical University

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Ministry of Health of the Russian Federation

Russian Academy of Sciences

Research Centre for Medical Genetics

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Sechenov University

Academy of Medical Sciences

Tomsk National Research Medical Center

Bashkir State Medical University

Russian Medical Academy of Continuous Professional Education

Center for Children

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Организация медико-генетической помощи населению республики Башкортостан

Медицинский вестник Башкортостана (2011)

Р. В. Магжанов А. К. Марданова С. Ш. Мурзабаева Ф. М. Байрамгулов

A 40-year scientific work and practical experience in the area of medical genetic counseling (MGC) in the Republic of Bashkortostan (RB) has been summarized. The overall practice results and prospects for further development of medical genetic consultation service among the population of the republic are presented in the article.

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АУДИТ РАННЕГО ПРЕНАТАЛЬНОГО СКРИНИНГА В СУБЪЕКТАХ РОССИЙСКОЙ ФЕДЕРАЦИИ. ЧАСТЬ 2. РЕСПУБЛИКА АДЫГЕЯ — ЯРОСЛАВСКАЯ ОБЛАСТЬ

Медицинская генетика (2015)

Л. А. Жученко П. А. Голошубов Е. Н. Андреева Е. А. Калашникова Е В Юдина

Early combined prenatal screening for frequent chromosomal abnormalities and congenital disorders was organized in the Russian Federation in 2010 on the initiative of the Ministry of Health and Social Development and with the support of the Government of the Russian Federation in accordance with FMF guidelines. The first results achieved in the implementation of the activities of new screening model, and the evaluation of key indicators and the general condition of the early prenatal screening in the regions and the federal districts of Russia are presented.

Christian ministry

10.1234/xxxx-xxxx-2014-8-3-60

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Pharmacoeconomic analysis of use of specialized health food line «MDMIL PKU» in children from birth compared with diet therapy, started in later periods

Pharmacoeconomics theory and practice (2016)

Yu.V. Rybchenko A.Yu. Kulikov R.I. Yagudinа А. М. Никонов А. Н. Давыдова

Abstact: Phenylketonuria is a hereditary disease associated with a metabolic disorder of amino acids in the organism, the prevalence of which in the Russian Federation is 1:10000.Currently, the main treatment of phenylketonuria is diet therapy with specialized health food (a mixture of amino acids without phenylalanine).This research presents the results of a comparison of diet therapy with medicinal mixtures of MDmil PKU line taken from the first month of life of a child compared to food of other producers, taken in later periods.Efficiency analysis is based on data provided by the major regional genetics specialists from 24 regions of the Russian Federation on treatment of 1088 children suffering from phenylketonuria.Cost analysis of treatment of patients with PKU until their majority reveals least expensive diet therapy initiated from the first month of life with specialized health food of MDmil PKU line compared with diet, started in later periods with specialized products of different manufacturers.During the "cost-effectiveness" analysis and the "cost-utility"analysis indicators of CER and CUR are identified showing that when used from the first month of life diet therapy with MDmil PKU line compared with diet, started in later periods with various manufacturers, it is easy to determine treatment of the first group of children as dominant.Budget impact analysis shows that diet therapy with specialized health food of MDmil PKU line in treatment of phenylketonuria can achieve cost savings of 34% to 38% depending on periods of commencement of the diet.

10.30809/phe.1.2016.1

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АУДИТ РАННЕГО ПРЕНАТАЛЬНОГО СКРИНИНГА В СУБЪЕКТАХ РОССИЙСКОЙ ФЕДЕРАЦИИ.ЧАСТЬ 1. АЛТАЙСКИЙ КРАЙ — ПЕРМСКИЙ КРАЙ

Медицинская генетика (2015)

Л. А. Жученко П. А. Голошубов Е. Н. Андреева Е. А. Калашникова Е В Юдина

Christian ministry

10.1234/xxxx-xxxx-2014-7-3-51

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Два клинических случая глутаровой ацидурии i типа в Республике Башкортостан

Annals of Clinical and Experimental Neurology (2020)

Е. В. Сайфуллина Р. В. Магжанов А И Давлетова А. К. Марданова Е А Тимофеева

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Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan

Annals of Clinical and Experimental Neurology (2020)

Е. В. Сайфуллина V Saifullina Elena Р. В. Магжанов V Magzhanov Rim А И Давлетова

Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids in biological fluids and tissues, which have a neurotoxic effect primarily on subcortical brain structures. We present two clinical cases of glutaric aciduria type I in children diagnosed after developing neurological symptoms. One patient had acute disease onset in the form of an encephalopathic crisis, which is typical for most clinical cases of the disease. The other patient developed subacute symptoms. Generalized dystonic hyperkinesia was a key sign of the disease in both patients. Information from the medical history and clinical presentation, together with the neuroimaging results, enabled us to suspect the right diagnosis and to confirm it using biochemical and then molecular genetic tests. In both cases, despite diet therapy using a specialized medicinal product, the patients continued to have motor disturbances.

Glutaric acid

10.25692/acen.2020.2.12

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Open, Non-Comparative Phase III Clinical Study to Evaluate the Efficacy and Safety of Sapropterin in Patients with Phenylketonuria and Hyperphenylalaninemia

Annals of the Russian academy of medical sciences (2014)

Т.V. Bushueva Л. М. Кузенкова Т.Э. Боровик Л. П. Назаренко G. N. Seitova

Phenylketonuria (PKU) is an autosomal recessive inherited disease associated with impaired metabolism of the amino acids phenylalanine (Phe) and tyrosine. The main criterion for diagnosis of PKU is high blood Phe level determined during neonatal screening. In case where PKU patient is responsive to tetrahydrobiopterin treatment, sapropterin restores the impaired activity of the enzyme phenylalanine hydroxylase, resulting in the stimulation of normal Phe metabolism and thereby enhancing patient tolerance to natural products.The present open, non-comparative clinical study was initiated to assess the degree and frequency of response after 8-day sapropterin administration and assess the safety of 6-week sapropterin treatment in patients with PKU and hyperphenylalaninemia.The study enrolled 90 patients with PKU. The criterion of response to 8-day sapropterin therapy was the reduction of Phe blood levels ≥ 30% compared with the baseline value.Positive response to treatment was observed in 30 (33.3%) patients (95% CI 23.7-44.1). The mean percentage change in Phe blood levels after the 8-day response test period compared to Phe levels prior to dosing was 14.1 ± 28.4% in the overall subject population (95% CI 8.2-20.1) and 44.3 ± 15.1% in the subpopulation of patients with a positive response (95% CI 38.6-49.9). During the study, adverse events were reported in 24 (26.7%) patients in the overall population in 16 (53.3%) patients in the subpopulation who had a response.The study results confirmed the efficacy and safety of sapropterin therapy in patients with PKU, which is consistent with international clinical trials data.

Hyperphenylalaninemia

Phenylalanine hydroxylase

Phenylketonurias

10.15690/vramn.v69i7-8.1111

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