Protein, Amino Acids and Nucleic Acids Metabolism Disorders

Литвицкий, Петр Францевич; Maltseva, Larisa D.

doi:10.15690/vsp.v14i1.1267

Cited by 4 publications

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“…Нині проблема метаболічних порушень за умов аліментарного дефіциту протеїну та надмірного споживання легкодоступних вуглеводів набуває особливої актуальності. Відомо, що аліментарна депривація протеїну призводить до інтенсифікації катаболічних процесів, індукції оксидативного стресу, водно-електролітного дисбалансу [6][7][8]. Водночас надлишкове вживання сахарози лежить в основі розвитку гіперінсулінемії, вираженої гіперглікемії, яка призводить до активації неферментативного глікозилюван ня протеїнів, що супроводжується порушенням їх функціональної активності [9,10].…”

Section: вступunclassified

The Ratio of Ubiquinon Redox Forms in the Rat Liver Mitochondria Under Conditions of Different Nutrient Supply

Voloshchuk¹,

Kopylchuk²,

Ursatyу³

2020

Fiziol Zh

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The relationship between the quantitative ratio of redox forms of ubiquinone and the degree of free radical damage to mitochondrial proteins in rat liver against the background of nutritional imbalance was investigated. The animals were divided into the following experimental groups: I – animals receiving full-value semi-synthetic ration (control group); II – animals receiving high-sucrose diet; III – animals receiving low-protein high-sucrose diet. The content of total and oxidized ubiquinone was determined spectrophotometrically at 275 nm, the content of reduced ubiquinone was determined by the difference between the content of total and oxidized ubiquinone. The intensity of the oxidative modification of proteins was assessed by the accumulation of carbonyl derivatives in the reaction with 2,4-dinitrophenylhydrazine (2,4-DNPH), the content of free SH-groups was assessed by using the Elman reagent. It was found that the most pronounced decrease in the content of total ubiquinone (almost twice) and the redistribution of its redox forms (reduction of the content of reduced ubiquinone by 7.2 times against the background of an increase in the level of oxidized ubiquinone by 2 times) in rat liver mitochondria is observed in animals that received a diet high in sucrose against the background of alimentary protein deprivation. In addition, the animals of this group showed the most pronounced free radical oxidation of mitochondrial proteins, as evidenced by a 3.5-fold increase in the content of carbonyl derivatives and a 2.6-fold decrease in the content of free protein SH- groups. It was shown that nutritional protein deficiency is a critical factor affecting the intensity of free radical processes in mitochondria. The established changes in the ratio of the redox forms of ubiquinone and the degree of oxidative modification of mitochondrial proteins in rat liver could be considered as prerequisites for deepening the energy imbalance and violation of the functional activity of mitochondria under conditions of nutritional imbalance.

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Section: вступunclassified

The Ratio of Ubiquinon Redox Forms in the Rat Liver Mitochondria Under Conditions of Different Nutrient Supply

Voloshchuk¹,

Kopylchuk²,

Ursatyу³

2020

Fiziol Zh

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“…Основные виды таких нарушений можно разделить на несколько групп: несоответствие количественного и качественного состава белка, поступающего в организм; трансмембранные нарушения транспортировки аминокислот из кишечного тракта в кровь; нарушения гидролиза белка в желудочно-кишечном тракте. Выделяют первичные (наследственные или врожденные) и вторичные (приобретенные или симптоматические) энзимопатии [1]. Большинство болезней обмена относятся к редким «орфанным» заболеваниям, которые могут манифестировать в любом возрасте, но статистически чаще дебют приходится на период раннего возраста [2].…”

Section: Introductionunclassified

Difficulties in diagnostics of urea synthesis cycle disturbance

Kolomeets,

Averyanova,

Khlynova

et al. 2023

jour

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Introduction. Hereditary metabolic diseases include a large group of diseases caused by genetic mutations with a high potential risk of transmitting this disorder to future offspring. Manifesting at any age and accompanied by recurrent and progressive clinical symptoms, some of these mutations become incompatible with life, while most lead to gross violations of the normal physiological process of child development. The paper presents a clinical case of hereditary urea synthesis disorder caused by deficiency of ornithine transcarbamylase of mitochondrial matrix in liver (hyperammonemia type 2) as a result of mutation of the OTC gene (MIM 300461). The disease recessive, linked with the X-chromosome and is associated with a high risk of mortality due to accumulation of toxic concentrations of ammonia. Materials and methods. The boy E., born in 2015. Introduction of protein-based complimentary foods and increase in its portion volume is associated with decrease in appetite, regurgitation, nausea, vomiting, flatulence, dyspepsia appear, and sharp weakness progresses. There is a significant increase in the blood concentration of intracellular liver enzymes. Physical development is slowed due to poor weight gain, and neuropsychiatric development lags significantly. Repeatedly examined in the hospital at the place of residence. Results obtained. A total of 47 genes with mutations causing hereditary diseases with predominant liver damage were studied by mass parallel sequencing. Substitution of c.523G>A (p.Asn175Asp) in the OTC gene in hemizygous state was detected. Clinical diagnosis was established: urea cycle metabolism disorder, hyperammonemia, ornithine transcarbamylase deficiency, E 72.2. Dietary recommendations were given. Carbaglu, Recordati, France at the rate of 100 mg/kg/24 h was prescribed on vital signs. Against the background of the therapy and dietary recommendations the condition of the child had a pronounced positive trend. Conclusions. Since the true incidence of this pathology in Russia has not been established (many cases of metabolic disorders of the urea cycle remain undiagnosed), the presented clinical case will allow clinicians, using modern possibilities of structural and functional analysis of the human genome, to make a timely diagnosis and prescribe adequate therapy, thereby not only prolonging the life of a young patient but also significantly improving its quality.

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“…Для данной группы заболеваний характерно острое начало, во многих случаях с необратимыми повреждениями нервной системы, а также высокая летальность, особенно в первый год жизни. Зачастую НБО лежат в основе внезапной детской смерти [5,6].…”

Section: Introductionunclassified

Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

Мартынович

Globenko

Kuznetsova³

2020

Acta biomedica scientifica

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A significant contribution to the morbidity and mortality of children is due to hereditary pathology, which is manifested by high mortality. Aim of the research. To study the frequency of occurrence, structure and clinical and laboratory markers of hereditary metabolic diseases in children of the first half of the year with suspicion of this pathology. Materials and methods. A retrospective analysis of case histories (form No. 003/y) and a face-to-face examination of patients directed to blood tests by tandem mass spectrometry, from Surgery Unit No. 2 for Newborns and Premature Babies and from the Unit of Pathology of Newborns, (Ivano-Matryoninskaya City Children’s Clinical Hospital, Irkutsk). Results. In 2019, 21 children with suspected hereditary metabolic diseases were examined using the tandem mass spectrometry method in the above mentioned departments. All of them had at least one of the main clinical criteria for hereditary metabolic diseases: 67 % had hepatomegaly in combination with an increase in the level of liver enzymes, 43 % had a hereditary history and metabolic acidosis, 33 % showed a sudden deterioration after a period of normal development, 24 % had hypoglycemia, and 14 % had an abnormal urine or body odor, in 4.7 % of cases there was an increase in ketone bodies in the blood and (or) urine. All children identified from 3 to 7 additional criteria, which are indications for examination on the hereditary metabolic diseases. The results of the study revealed 5 children with hereditary metabolic diseases namely amino acid metabolism. 90 % of them had a burdened hereditary history, 100 % had a concomitant pathology – hepatitis and cholestatic lesions of the liver, anemia, an open oval window and others. Conclusion. Despite the obvious economic and medical significance of preclinical identification of patients with hereditary metabolic diseases, the screening problem contains many open questions that need to be addressed at all levels of the organization.

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Protein, Amino Acids and Nucleic Acids Metabolism Disorders

Abstract: This lecture reviews types, causes and key points of pathogenesis of protein, amino acids and nucleic acids metabolism disorders, as well as their clinical implications.

Cited by 4 publications

References 0 publications

The Ratio of Ubiquinon Redox Forms in the Rat Liver Mitochondria Under Conditions of Different Nutrient Supply

The Ratio of Ubiquinon Redox Forms in the Rat Liver Mitochondria Under Conditions of Different Nutrient Supply

Difficulties in diagnostics of urea synthesis cycle disturbance

Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

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