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Articles de revues sur le sujet « Amino acids Metabolism Disorders »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 28 janvier 2023

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1

Litvitskii, P. F., and L. D. Mal'tseva. "PROTEIN, AMINO ACIDS AND NUCLEIC ACIDS METABOLISM DISORDERS." Current pediatrics 14, no. 1 (2015): 95–107. http://dx.doi.org/10.15690/vsp.v14i1.1267.

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Knerr, Ina, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, and Jörn Oliver Sass. "Amino Acids and Inherited Amino Acid-Related Disorders." Journal of Nutrition and Metabolism 2018 (September 10, 2018): 1–2. http://dx.doi.org/10.1155/2018/5629454.

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Owayes Muaffaq Hamed, Amjad Abdul-hadi Mohammed, and Raed Salem Alsaffar. "Genetic Metabolism Disorders in Newborn." International Journal for Research in Applied Sciences and Biotechnology 8, no. 1 (January 13, 2021): 77–81. http://dx.doi.org/10.31033/ijrasb.8.1.9.

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Babies with any type of metabolic disorders lack the ability to break down the food well, which may induce too little amino acids, phenylalanine and blood sugar to the body, there are numerous kinds of this disorders, most of babies with a genetic metabolic disease have many mutation in gene that coded an enzyme which results a deficiency in same enzyme are hundreds of these disorders and they were diagnosed by their symptoms and the treatment method. The treatment methods of the metabolic disorder depend on the specific type of disorders, inborn metabolic disease are some-time treated with di

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Xie, Fei, Zhengqun Liu, Ming Liu, Liang Chen, Wei Ding, and Hongfu Zhang. "Amino Acids Regulate Glycolipid Metabolism and Alter Intestinal Microbial Composition." Current Protein & Peptide Science 21, no. 8 (November 9, 2020): 761–65. http://dx.doi.org/10.2174/1389203721666200219100216.

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Amino acids (AAs) and their metabolites regulate key metabolic pathways that are necessary for growth, reproduction, immunity and metabolism of the body. It has been convinced that metabolic diseases are closely related to disorders of glycolipid metabolism. A growing number of studies have shown that AAs are closely related to energy metabolism. This review focuses on the effects of amino acids (arginine, branched-chain amino acids, glutamine) and their metabolites (short chain fatty acids) on glycolipid metabolism by regulating PI3K/AKT/mTOR and AMPK signaling pathways and GPCRs receptors, r

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Barvinska, O. I., N. V. Olkhovych, and N. G. Gorovenko. "Determination of the reference values of amino acids and acylcarnitines level in the newborn dry blood spots in Ukraine." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 16, no. 1 (September 7, 2018): 12–19. http://dx.doi.org/10.7124/visnyk.utgis.16.1.898.

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Aim. Implementation of neonatal screening of the group of severe inherited disorders of amino acids, fatty and organic acids metabolism in Ukraine involves determination of the biological variation of amino acids and acylcarnitines level in the blood that depends on the gender, geographical origin of the samples and the gestation term of newborn. Methods. The main method of rapid and reliable diagnosis of this group of inherited disorders is determination of amino acids and acylcarnitines level by liquid chromatography tandem mass spectrometry. Results. Reference intervals of amino acids and a

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Sperl, W., D. Skladal, W. Endres, G. Speer, and K. Groke. "Parenteral administration of amino acids in disorders of branched-chain amino acid metabolism." Journal of Inherited Metabolic Disease 17, no. 6 (1994): 753–54. http://dx.doi.org/10.1007/bf00712021.

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Cheng, Yu-Jung, Chieh-Hsin Lin, and Hsien-Yuan Lane. "d-Amino Acids and pLG72 in Alzheimer’s Disease and Schizophrenia." International Journal of Molecular Sciences 22, no. 20 (October 9, 2021): 10917. http://dx.doi.org/10.3390/ijms222010917.

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Numerous studies over the last several years have shown that d-amino acids, especially d-serine, have been related to brain and neurological disorders. Acknowledged neurological functions of d-amino acids include neurotransmission and learning and memory functions through modulating N-methyl-d-aspartate type glutamate receptors (NMDARs). Aberrant d-amino acids level and polymorphisms of genes related to d-amino acids metabolism are associated with neurodegenerative brain conditions. This review summarizes the roles of d-amino acids and pLG72, also known as d-amino acid oxidase activator, on tw

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Galan, I. O., S. T. Omelychuk, R. G. Protsyuk, V. I. Petrenko, T. I. Anistratenko, and A. V. Galan. "PREBIOTICS AND NUTRITIONAL CORRECTION IN INTEGRATED THERAPY OF PATIENTS WITH PULMONARY TUBERCULOSIS AND COMORBID PROTEIN METABOLIC DISORDERS." Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії 20, no. 2 (July 6, 2020): 23–30. http://dx.doi.org/10.31718/2077-1096.20.2.23.

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The purpose of the work is to study the effectiveness of prebiotics and nutritional correction as components of the integrated therapy of patients with pulmonary tuberculosis and protein metabolic disorders. 67 patients with pulmonary tuberculosis were examined and then divided into two groups: I group included 35 patients, who received standard antimycobacterial therapy in the intensive phase of the treatment in combination with prebiotic (lactulose) in a dose of 20 ml 3 times a day plus nutriological correction of metabolic disorders; the II group included 32 patients, who received standard

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Medghalchi, Abdolreza. "The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes." Caspian Journal of Neurological Sciences 6, no. 3 (July 1, 2020): 190–96. http://dx.doi.org/10.32598/cjns.6.22.5.

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Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. Because of the importance of the aforementioned issue, we investigated the effect of IMDs on the eye in this review. Metabolic disorders can induce abnormalities in conjunctiva, cornea, lens, retina, opti

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Kožich, Viktor, and Sally Stabler. "Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism." Journal of Nutrition 150, Supplement_1 (October 1, 2020): 2506S—2517S. http://dx.doi.org/10.1093/jn/nxaa134.

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ABSTRACT The metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic

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Kareem, Adel A. "Disturbances of Amino Acid Metabolism in Neurologic Disorders detected by fluorescent high performance liquid chromotograghy (HPLC) in Baghdad - IRAQ." AL-Kindy College Medical Journal 13, no. 1 (November 13, 2019): 39–45. http://dx.doi.org/10.47723/kcmj.v13i1.121.

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Background:Amino acid disorders are a major group of inborn error metabolism (IEM) with variable clinical presentation; its diagnosis constitutes a real challenge in a community with high consanguinity rate and no systematic newborn screening. Objectives: to provide data about amino acid disorders detected in high-risk Iraqi children by using quantitative amino acid fluorescent high performance liquid chromatography (HPLC) analysis. Type of the study: Cross-sectional study. Methods: a descriptive cross sectional study from 1st February to 1st December 2014, at Neurological wa

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Wang, Dunfang, Xuran Ma, Shanshan Guo, Yanli Wang, Tao Li, Dixin Zou, Hongxin Song, Weipeng Yang, and Yongxiang Ge. "Effect of Huangqin Tang on Urine Metabolic Profile in Rats with Ulcerative Colitis Based on UPLC-Q-Exactive Orbitrap MS." Evidence-Based Complementary and Alternative Medicine 2020 (April 22, 2020): 1–11. http://dx.doi.org/10.1155/2020/1874065.

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As a classic prescription, Huangqin Tang (HQT) has been widely applied to treat ulcerative colitis (UC), although its pharmacological mechanisms are not clear. In this study, urine metabolomics was first analysed to explore the therapeutic mechanisms of HQT in UC rats induced by TNBS. We identified 28 potential biomarkers affected by HQT that might cause changes in urine metabolism in UC rats, mapped the network of metabolic pathways, and revealed how HQT affects metabolism of UC rats. The results showed that UC affects amino acid metabolism and biosynthesis of unsaturated fatty acids and impa

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Tesseraud, Sophie, Sonia Métayer Coustard, Anne Collin, and Iban Seiliez. "Role of sulfur amino acids in controlling nutrient metabolism and cell functions: implications for nutrition." British Journal of Nutrition 101, no. 8 (December 15, 2008): 1132–39. http://dx.doi.org/10.1017/s0007114508159025.

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Protein synthesis is affected when an insufficient level of sulfur amino acids is available. This defect may originate from dietary amino acid deficiency and/or excessive amino acid utilisation for other purposes such as the synthesis of glutathione and acute-phase proteins during catabolic stress. Sulfur amino acids are recognised to exert other significant functions since they are precursors of essential molecules, are involved in the methylation process, participate in the control of oxidative status, and may act as mediators affecting metabolism and cell functions. Despite this increased u

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Yue, Lingling, Pengyun Zeng, Yanhong Li, Ye Chai, Chongyang Wu, and Bingren Gao. "Nontargeted and targeted metabolomics approaches reveal the key amino acid alterations involved in multiple myeloma." PeerJ 10 (February 9, 2022): e12918. http://dx.doi.org/10.7717/peerj.12918.

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Purpose Multiple myeloma (MM), a kind of malignant neoplasm of clonal plasma cells in the bone marrow, is a refractory disease. Understanding the metabolism disorders and identification of metabolomics pathways as well as key metabolites will provide new insights for exploring diagnosis and therapeutic targets of MM. Methods We conducted nontargeted metabolomics analysis of MM patients and normal controls (NC) using ultra-high-performance liquid chromatography (UHPLC) combined with quadrupole time-of-flight mass spectrometry (Q-TOF-MS) in 40 cases of cohort 1 subjects. The targeted metabolomic

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Xu, Jing, Youseff Jakher, and Rebecca C. Ahrens-Nicklas. "Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders." International Journal of Molecular Sciences 21, no. 20 (October 11, 2020): 7490. http://dx.doi.org/10.3390/ijms21207490.

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Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). Current management of this BCAA dyshomeostasis consists of dietary restriction of BCAAs and liver transplantation, which aims to partially restore functional BCKDC activity in the periphery. These treatments improve the circulating levels of BCAAs and significantly increase survival rates in MSUD patients. However, significant cognitive and psychiatric m

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Delaye, Jean-Baptiste, Franck Patin, Emmanuelle Lagrue, Olivier Le Tilly, Clement Bruno, Marie-Laure Vuillaume, Martine Raynaud, et al. "Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 55, no. 5 (February 22, 2018): 543–52. http://dx.doi.org/10.1177/0004563218760351.

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Objectives Autism spectrum disorders and intellectual disability present a challenge for therapeutic and dietary management. We performed a re-analysis of plasma amino acid chromatography of children with autism spectrum disorders ( n = 22) or intellectual disability ( n = 29) to search for a metabolic signature that can distinguish individuals with these disorders from controls ( n = 30). Methods We performed univariate and multivariate analyses using different machine learning strategies, from the raw data of the amino acid chromatography. Finally, we analysed the metabolic pathways associat

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Bastings, Jacco J. A. J., Hans M. van Eijk, Steven W. Olde Damink, and Sander S. Rensen. "d-amino Acids in Health and Disease: A Focus on Cancer." Nutrients 11, no. 9 (September 12, 2019): 2205. http://dx.doi.org/10.3390/nu11092205.

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d-amino acids, the enantiomeric counterparts of l-amino acids, were long considered to be non-functional or not even present in living organisms. Nowadays, d-amino acids are acknowledged to play important roles in numerous physiological processes in the human body. The most commonly studied link between d-amino acids and human physiology concerns the contribution of d-serine and d-aspartate to neurotransmission. These d-amino acids and several others have also been implicated in regulating innate immunity and gut barrier function. Importantly, the presence of certain d-amino acids in the human

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LEMIEUX, BERNARD, ROBERT GIGUERE, DENIS CYR, DENIS SHAPCOTT, MARK MCCANN, and MENDEL TUCHMAN. "Screening Urine of 3-Week-Old Newborns: Lack of Association Between Sudden Infant Death Syndrome and Some Metabolic Disorders." Pediatrics 91, no. 5 (May 1, 1993): 986–88. http://dx.doi.org/10.1542/peds.91.5.986.

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The only genetic metabolic disorder clearly linked thus far to sudden infant death syndrome (SIDS) is medium-chain acylcoenzyme A dehydrogenase (MCAD) deficiency. There has been no evidence for an association between SIDS and other hereditary metabolic disorders. A few studies, which were often carried out retrospectively on single subjects, have involved the measurement of various metabolites including organic acids, carnitine, free amino acids, and the enzymes implicated in the oxidation of fatty acids, and these have not linked SIDS to inborn errors of metabolism. The study of Harpey et al1

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Pepplinkhuizen, L., F. M. M. A. van der Heijden, S. Tuinier, W. M. A. Verhoeven, and D. Fekkes. "The acute transient polymorphic psychosis: a biochemical subtype of the cycloid psychosis." Acta Neuropsychiatrica 15, no. 1 (February 2003): 38–43. http://dx.doi.org/10.1034/j.1601-5215.2003.00016.x.

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Background:The pathogenesis of atypical psychoses, in particularly those characterized by polymorphic psychopathology, is hypothesized to be related to disturbances in amino acid metabolism.Objective:In the present study, the role of the amino acid serine was investigated in patients with acute transient polymorphic psychosis.Methods:Patients were loaded with serine and with the amino acids glycine and alanine as controls and subsequently evaluated for the development of psychopathological symptoms. In addition, plasma levels of amino acids were measured.Results:In a subgroup of patients suffe

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Humer, Elke, Christoph Pieh, and Georg Brandmayr. "Metabolomics in Sleep, Insomnia and Sleep Apnea." International Journal of Molecular Sciences 21, no. 19 (September 30, 2020): 7244. http://dx.doi.org/10.3390/ijms21197244.

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Sleep-wake disorders are highly prevalent disorders, which can lead to negative effects on cognitive, emotional and interpersonal functioning, and can cause maladaptive metabolic changes. Recent studies support the notion that metabolic processes correlate with sleep. The study of metabolite biomarkers (metabolomics) in a large-scale manner offers unique opportunities to provide insights into the pathology of diseases by revealing alterations in metabolic pathways. This review aims to summarize the status of metabolomic analyses-based knowledge on sleep disorders and to present knowledge in un

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Holeček, Milan. "Branched-Chain Amino Acids and Branched-Chain Keto Acids in Hyperammonemic States: Metabolism and as Supplements." Metabolites 10, no. 8 (August 9, 2020): 324. http://dx.doi.org/10.3390/metabo10080324.

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In hyperammonemic states, such as liver cirrhosis, urea cycle disorders, and strenuous exercise, the catabolism of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) is activated and BCAA concentrations decrease. In these conditions, BCAAs are recommended to improve mental functions, protein balance, and muscle performance. However, clinical trials have not demonstrated significant benefits of BCAA-containing supplements. It is hypothesized that, under hyperammonemic conditions, enhanced glutamine availability and decreased BCAA levels facilitate the amination of branched-chai

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Olga A. Gracheva, Alizade S. Gasanov, Damir R. Amirov, Bulat F. Tamimdarov, Dina M. Mukhutdinova, Sergey Yu. Smolentsev, Irina I. Strelnikova, and Tatyana V. Izekeeva. "Study of the effect of different levels of arginine in feed on broiler chickens." International Journal of Research in Pharmaceutical Sciences 11, no. 1 (January 28, 2020): 908–12. http://dx.doi.org/10.26452/ijrps.v11i1.1913.

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Amino acids are the basic structural units of protein molecules in the body. Currently, about 300 amino acids are known, of which 26 are studied best. Amino acids or their derivatives (for example, immune bodies) are part of enzymes, hormones, pigments, and other specific substances that play a crucial role in digestive and metabolic processes. In the process of metabolism, many amino acids are synthesized in the body from other amino acids or compounds, and therefore they are called interchangeable. Amino acids that are not synthesized in the body or are formed in insufficient quantities are

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Butterfield, David Allan, Maria Favia, Iolanda Spera, Annalisa Campanella, Martina Lanza, and Alessandra Castegna. "Metabolic Features of Brain Function with Relevance to Clinical Features of Alzheimer and Parkinson Diseases." Molecules 27, no. 3 (January 30, 2022): 951. http://dx.doi.org/10.3390/molecules27030951.

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Brain metabolism is comprised in Alzheimer’s disease (AD) and Parkinson’s disease (PD). Since the brain primarily relies on metabolism of glucose, ketone bodies, and amino acids, aspects of these metabolic processes in these disorders—and particularly how these altered metabolic processes are related to oxidative and/or nitrosative stress and the resulting damaged targets—are reviewed in this paper. Greater understanding of the decreased functions in brain metabolism in AD and PD is posited to lead to potentially important therapeutic strategies to address both of these disorders, which cause

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Marklová, Eliška. "Microelements and Inherited Metabolic Diseases." Acta Medica (Hradec Kralove, Czech Republic) 45, no. 4 (2002): 129–33. http://dx.doi.org/10.14712/18059694.2019.69.

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In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and utilisation of microelements have also been recognized. Recent findings concerning hereditary hemochromatosis (iron), Wilson and Menkes diseases (copper), molybdenum cofactor deficiency (molybdenum), defects of cobalamine synthesis (cobalt) and acrodermatitis enteropathica (zinc) are reviewed.

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Breuer, Maximilian, and Shunmoogum A. Patten. "A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish." Biomolecules 10, no. 9 (September 22, 2020): 1352. http://dx.doi.org/10.3390/biom10091352.

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Inborn errors of metabolism cause abnormal synthesis, recycling, or breakdown of amino acids, neurotransmitters, and other various metabolites. This aberrant homeostasis commonly causes the accumulation of toxic compounds or depletion of vital metabolites, which has detrimental consequences for the patients. Efficient and rapid intervention is often key to survival. Therefore, it requires useful animal models to understand the pathomechanisms and identify promising therapeutic drug targets. Zebrafish are an effective tool to investigate developmental mechanisms and understanding the pathophysi

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Mayrink, Jussara, Debora F. Leite, Guilherme M. Nobrega, Maria Laura Costa, and Jose Guilherme Cecatti. "Prediction of pregnancy-related hypertensive disorders using metabolomics: a systematic review." BMJ Open 12, no. 4 (April 2022): e054697. http://dx.doi.org/10.1136/bmjopen-2021-054697.

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ObjectiveTo determine the accuracy of metabolomics in predicting hypertensive disorders in pregnancy.DesignSystematic review of observational studies.Data sources and study eligibility criteriaAn electronic literature search was performed in June 2019 and February 2022. Two researchers independently selected studies published between 1998 and 2022 on metabolomic techniques applied to predict the condition; subsequently, they extracted data and performed quality assessment. Discrepancies were dealt with a third reviewer. The primary outcome was pre-eclampsia. Cohort or case–control studies were

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Gu, Yaping, Xiu Luo, Subhabrata Basu, Hisashi Fujioka, and Neena Singh. "Cell-Specific Metabolism and Pathogenesis of Transmembrane Prion Protein." Molecular and Cellular Biology 26, no. 7 (April 1, 2006): 2697–715. http://dx.doi.org/10.1128/mcb.26.7.2697-2715.2006.

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ABSTRACT The C-transmembrane form of prion protein (CtmPrP) has been implicated in prion disease pathogenesis, but the factors underlying its biogenesis and cyotoxic potential remain unclear. Here we show that CtmPrP interferes with cytokinesis in cell lines where it is transported to the plasma membrane. These cells fail to separate following cell division, assume a variety of shapes and sizes, and contain multiple nuclei, some of which are pyknotic. Furthermore, the synthesis and transport of CtmPrP to the plasma membrane are modulated through a complex interaction between cis- and trans-act

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Li, Zhenrui, Keiyo Takubo, Pengxu Qian, Toshio Suda, and Linheng Li. "Amino Acid Transporter X Is Required for Hematopoietic Stem Cell Maintenance through Regulating Specific Amino Acids Level." Blood 126, no. 23 (December 3, 2015): 1166. http://dx.doi.org/10.1182/blood.v126.23.1166.1166.

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Abstract Hematopoietic stem cells (HSCs) maintenance is required to preserve stem cell pool and compensate the dynamic loss of blood cells. Previous studies of HSCs maintenance mainly focus on the quiescent versus active state of HSCs and accumulated evidence indicates that metabolism plays a critical role in coordinating divergent stem cell states. While recent reports largely emphasized the role of catabolic glycolysis on long-term (LT) HSC maintenance, we found that free amino acids are enriched in primitive stem cell by ~1.5 fold. Given that amino acid metabolism in HSCs is largely unknown

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Kelts, Drew G., Denise Ney, Carolyn Bay, Jean-Marie Saudubray, and William L. Nyhan. "Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine." Pediatric Research 19, no. 1 (January 1985): 86–91. http://dx.doi.org/10.1203/00006450-198501000-00023.

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De Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo, and Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism." International Journal of Molecular Sciences 21, no. 12 (June 12, 2020): 4211. http://dx.doi.org/10.3390/ijms21124211.

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Mucopolysaccharidoses (MPSs) are inherited disorders of the glycosaminoglycan (GAG) metabolism. The defective digestion of GAGs within the intralysosomal compartment of affected patients leads to a broad spectrum of clinical manifestations ranging from cardiovascular disease to neurological impairment. The molecular mechanisms underlying the progression of the disease downstream of the genetic mutation of genes encoding for lysosomal enzymes still remain unclear. Here, we applied a targeted metabolomic approach to a mouse model of PS IIIB, using a platform dedicated to the diagnosis of inherit

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Piubelli, Luciano, Giulia Murtas, Valentina Rabattoni, and Loredano Pollegioni. "The Role of D-Amino Acids in Alzheimer’s Disease." Journal of Alzheimer's Disease 80, no. 2 (March 23, 2021): 475–92. http://dx.doi.org/10.3233/jad-201217.

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Alzheimer’s disease (AD), the main cause of dementia worldwide, is characterized by a complex and multifactorial etiology. In large part, excitatory neurotransmission in the central nervous system is mediated by glutamate and its receptors are involved in synaptic plasticity. The N-methyl-D-aspartate (NMDA) receptors, which require the agonist glutamate and a coagonist such as glycine or the D-enantiomer of serine for activation, play a main role here. A second D-amino acid, D-aspartate, acts as agonist of NMDA receptors. D-amino acids, present in low amounts in nature and long considered to b

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Freeto, Scott, Donald Mason, Jie Chen, Robert H. Scott, Srinivas B. Narayan, and Michael J. Bennett. "A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 44, no. 5 (September 1, 2007): 474–81. http://dx.doi.org/10.1258/000456307781646012.

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Background: Patients with inherited disorders of amino acid metabolism including maple syrup urine disease, tyrosinaemia and phenylketonuria on dietary management require frequent monitoring of disease-relevant plasma amino acids in order to optimize therapeutic benefit. Poorly controlled maple syrup urine disease in particular may result in catastrophic metabolic decompensation. Most methods for monitoring amino acid concentrations are time-consuming and have clinically impractical turnaround times, particularly when the required time to run standards and control samples is taken into account

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Pulido, Jose E., Jose S. Pulido, Jay C. Erie, Jorge Arroyo, Kurt Bertram, Miao-Jen Lu, and Scott A. Shippy. "A Role for Excitatory Amino Acids in Diabetic Eye Disease." Experimental Diabetes Research 2007 (2007): 1–7. http://dx.doi.org/10.1155/2007/36150.

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Diabetic retinopathy is a leading cause of vision loss. The primary clinical hallmarks are vascular changes that appear to contribute to the loss of sight. In a number of neurodegenerative disorders there is an appreciation that increased levels of excitatory amino acids are excitotoxic. The primary amino acid responsible appears to be the neurotransmitter glutamate. This review examines the nature of glutamatergic signaling at the retina and the growing evidence from clinical and animal model studies that glutamate may be playing similar excitotoxic roles at the diabetic retina.

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Holeček, Milan. "Serine Metabolism in Health and Disease and as a Conditionally Essential Amino Acid." Nutrients 14, no. 9 (May 9, 2022): 1987. http://dx.doi.org/10.3390/nu14091987.

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L-serine plays an essential role in a broad range of cellular functions including protein synthesis, neurotransmission, and folate and methionine cycles and synthesis of sphingolipids, phospholipids, and sulphur containing amino acids. A hydroxyl side-chain of L-serine contributes to polarity of proteins, and serves as a primary site for binding a phosphate group to regulate protein function. D-serine, its D-isoform, has a unique role. Recent studies indicate increased requirements for L-serine and its potential therapeutic use in some diseases. L-serine deficiency is associated with impaired

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Maltsev, S. V., V. M. Davydova, and E. I. Zemlyakova. "Clinic and diagnosis of metabolic nephropathies in children." Kazan medical journal 67, no. 5 (September 15, 1986): 358–60. http://dx.doi.org/10.17816/kazmj70701.

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We examined 70 patients with metabolic nephropathy (51 with oxaluria predominance, 19 with uric acid metabolism disorders). Distribution of patients into groups was carried out according to the results of multistage research, including analysis of pedigree; repeated biochemical studies, clinical and radiological comparisons. Endogenous creatinine clearance, residual nitrogen level, urea in blood, acid-base balance were determined to characterize the functional state of the kidneys. Renal tubular function was assessed by urinary excretion of calcium, phosphates, amino acids, titratable acids, Z

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Blaauwendraad, Sophia M., Rama J. Wahab, Bas B. van Rijn, Berthold Koletzko, Vincent W. V. Jaddoe, and Romy Gaillard. "Associations of Early Pregnancy Metabolite Profiles with Gestational Blood Pressure Development." Metabolites 12, no. 12 (November 24, 2022): 1169. http://dx.doi.org/10.3390/metabo12121169.

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Blood pressure development plays a major role in both the etiology and prediction of gestational hypertensive disorders. Metabolomics might serve as a tool to identify underlying metabolic mechanisms in the etiology of hypertension in pregnancy and lead to the identification of novel metabolites useful for the prediction of gestational hypertensive disorders. In a population-based, prospective cohort study among 803 pregnant women, liquid chromatography—mass spectrometry was used to determine serum concentrations of amino-acids, non-esterified fatty acids, phospholipids and carnitines in early

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Juárez-Flores, Diana Luz, Mario Ezquerra, ïngrid Gonzàlez-Casacuberta, Aida Ormazabal, Constanza Morén, Eduardo Tolosa, Raquel Fucho, et al. "Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus." Antioxidants 9, no. 11 (October 30, 2020): 1063. http://dx.doi.org/10.3390/antiox9111063.

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Idiopathic Parkinson’s disease (iPD) and type 2 diabetes mellitus (T2DM) are chronic, multisystemic, and degenerative diseases associated with aging, with eventual epidemiological co-morbidity and overlap in molecular basis. This study aims to explore if metabolic and mitochondrial alterations underlie the previously reported epidemiologic and clinical co-morbidity from a molecular level. To evaluate the adaptation of iPD to a simulated pre-diabetogenic state, we exposed primary cultured fibroblasts from iPD patients and controls to standard (5 mM) and high (25 mM) glucose concentrations to fu

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De Meirleir, Linda. "Defects of Pyruvate Metabolism and the Krebs Cycle." Journal of Child Neurology 17, no. 3_suppl (December 2002): 26–34. http://dx.doi.org/10.1177/088307380201703s01.

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Seizures and metabolic disease are frequently associated, either indirectly as a consequence of the metabolically caused brain dysgenesis or directly by the metabolic derangement. This article describes defects in pyruvate metabolism (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency) and Krebs cycle defects such as fumarase deficiency. Clinical characterizations and diagnostic strategies have been developed for each of these diseases. In contrast, very little is known about the specific epileptic features in these disorders. In females with a pyruvate dehydrogenase deficiency

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Strutinschi, T., Ion Mereuta, V. Caraus, V. Dubcenco, Lilia Poleacova, V. Fedas, I. Gutium, and V. Gutium. "The mechanism of metabolic disorders in COVID-19 and possible ways of prevention." Bulletin of the Academy of Sciences of Moldova. Medical Sciences, no. 2(73) (November 2022): 158–68. http://dx.doi.org/10.52692/1857-0011.2022.2-73.26.

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The article presents the results of studies on the effect of COVID-19 on protein metabolism and, in particular, immunoactive amino acids, as well as glutathione, which reflects the antioxidant potential of the body. The possibility of using dietary supplements to increase the activity of the immune system and its resistance against coronavirus infection, both in preventive measures and as an additional element in medical procedures during the SARS-CoV-2 pandemic, has been shown.

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Ancu, Oana, Monika Mickute, Nicola D. Guess, Nicholas M. Hurren, Nicholas A. Burd, and Richard W. Mackenzie. "Does high dietary protein intake contribute to the increased risk of developing prediabetes and type 2 diabetes?" Applied Physiology, Nutrition, and Metabolism 46, no. 1 (January 2021): 1–9. http://dx.doi.org/10.1139/apnm-2020-0396.

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Insulin resistance is a complex metabolic disorder implicated in the development of many chronic diseases. While it is generally accepted that body mass loss should be the primary approach for the management of insulin resistance-related disorders in overweight and obese individuals, there is no consensus among researchers regarding optimal protein intake during dietary restriction. Recently, it has been suggested that increased plasma branched-chain amino acids concentrations are associated with the development of insulin resistance and type 2 diabetes. The exact mechanism by which excessive

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Boenzi, Sara, and Daria Diodato. "Biomarkers for mitochondrial energy metabolism diseases." Essays in Biochemistry 62, no. 3 (July 6, 2018): 443–54. http://dx.doi.org/10.1042/ebc20170111.

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Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for th

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Sokolova, Iryna I., Olena H. Yaroshenko, Svitlana I. Herman, Tetiana V. Tomilina, Karyna V. Skydan, and Maxym I. Skydan. "FEATURES OF DENTAL STATUS AND METABOLISM IN CHILDREN WITH EARLY CHILDHOOD CARIES AGAINST THE BACKGROUND OF CONNECTIVE TISSUE DYSPLASIA." Wiadomości Lekarskie 74, no. 10 (2021): 2503–9. http://dx.doi.org/10.36740/wlek202110125.

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The aim: To assess the dental status of infants suffering from connective tissue dysplasia, with the analysis of some aspects of hydrocarbon and amino acid metabolism (blood, urine) and internal organs status. Materials and methods: 81 infants (aged 14 – 36 months) with multiple dental caries were examined. Among them 39 infants were suffered from connective tissue dysplasia. Results: High prevalence of caries in infants against the background of connective tissue dysplasia compared to their peers in the control group (p <0.05) is established: the caries intensity index and the caries inten

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Wasyluk, Weronika, and Agnieszka Zwolak. "Metabolic Alterations in Sepsis." Journal of Clinical Medicine 10, no. 11 (May 29, 2021): 2412. http://dx.doi.org/10.3390/jcm10112412.

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Sepsis is defined as “life-threatening organ dysfunction caused by a dysregulated host response to infection”. Contrary to the older definitions, the current one not only focuses on inflammation, but points to systemic disturbances in homeostasis, including metabolism. Sepsis leads to sepsis-induced dysfunction and mitochondrial damage, which is suggested as a major cause of cell metabolism disorders in these patients. The changes affect the metabolism of all macronutrients. The metabolism of all macronutrients is altered. A characteristic change in carbohydrate metabolism is the intensificati

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Thoman, Maxton E., and Susan C. McKarns. "Metabolomic Profiling in Neuromyelitis Optica Spectrum Disorder Biomarker Discovery." Metabolites 10, no. 9 (September 18, 2020): 374. http://dx.doi.org/10.3390/metabo10090374.

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There is no specific test for diagnosing neuromyelitis optica spectrum disorder (NMOSD), a disabling autoimmune disease of the central nervous system. Instead, diagnosis relies on ruling out other related disorders with overlapping clinical symptoms. An urgency for NMOSD biomarker discovery is underscored by adverse responses to treatment following misdiagnosis and poor prognosis following the delayed onset of treatment. Pathogenic autoantibiotics that target the water channel aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) contribute to NMOSD pathology. The importance of earl

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Coppola, Anna, Brett R. Wenner, Olga Ilkayeva, Robert D. Stevens, Mauro Maggioni, Theodore A. Slotkin, Edward D. Levin, and Christopher B. Newgard. "Branched-chain amino acids alter neurobehavioral function in rats." American Journal of Physiology-Endocrinology and Metabolism 304, no. 4 (February 15, 2013): E405—E413. http://dx.doi.org/10.1152/ajpendo.00373.2012.

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Recently, we have described a strong association of branched-chain amino acids (BCAA) and aromatic amino acids (AAA) with obesity and insulin resistance. In the current study, we have investigated the potential impact of BCAA on behavioral functions. We demonstrate that supplementation of either a high-sucrose or a high-fat diet with BCAA induces anxiety-like behavior in rats compared with control groups fed on unsupplemented diets. These behavioral changes are associated with a significant decrease in the concentration of tryptophan (Trp) in brain tissues and a consequent decrease in serotoni

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Solís-Ortiz, Silvia, Virginia Arriaga-Avila, Aurora Trejo-Bahena, and Rosalinda Guevara-Guzmán. "Deficiency in the Essential Amino Acids l-Isoleucine, l-Leucine and l-Histidine and Clinical Measures as Predictors of Moderate Depression in Elderly Women: A Discriminant Analysis Study." Nutrients 13, no. 11 (October 29, 2021): 3875. http://dx.doi.org/10.3390/nu13113875.

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Increases in depression are common in some elderly women. Elderly women often show moderate depressive symptoms, while others display minimal depressive symptoms. These discrepancies have produced contradictory and inconclusive outcomes, which have not been explained entirely by deficits in neurotransmitter precursors. Deficiency in some amino acids have been implicated in major depression, but its role in non-clinical elderly women is not well known. An analysis of essential amino acids, depression and the use of discriminant analysis can help to clarify the variation in depressive symptoms e

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Bell, Alan W., and Richard A. Ehrhardt. "Regulation of placental nutrient transport and implications for fetal growth." Nutrition Research Reviews 15, no. 2 (December 2002): 211–30. http://dx.doi.org/10.1079/nrr200239.

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AbstractFetal macronutrient requirements for oxidative metabolism and growth are met by placental transport of glucose, amino acids, and, to a lesser extent that varies with species, fatty acids. It is becoming possible to relate the maternal–fetal transport kinetics of these molecules in vivo to the expression and distribution of specific transporters among placental cell types and subcellular membrane fractions. This is most true for glucose transport, although apparent inconsistencies among data on the roles and relative importance of the predominant placenta glucose transporters, GLUT-1 an

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Shayakhmetova, Ganna M., Larysa B. Bondarenko, Anatoliy V. Matvienko, and Valentina M. Kovalenko. "Chronic alcoholism-mediated metabolic disorders in albino rat testes." Interdisciplinary Toxicology 7, no. 3 (September 1, 2014): 165–72. http://dx.doi.org/10.2478/intox-2014-0023.

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ABSTRACT There is good evidence for impairment of spermatogenesis and reductions in sperm counts and testosterone levels in chronic alcoholics. The mechanisms for these effects have not yet been studied in detail. The consequences of chronic alcohol consumption on the structure and/or metabolism of testis cell macromolecules require to be intensively investigated. The present work reports the effects of chronic alcoholism on contents of free amino acids, levels of cytochrome P450 3A2 (CYP3A2) mRNA expression and DNA fragmentation, as well as on contents of different cholesterol fractions and p

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She, Jianqing, Manyun Guo, Hongbing Li, Junhui Liu, Xiao Liang, Peining Liu, Bo Zhou, et al. "Targeting amino acids metabolic profile to identify novel metabolic characteristics in atrial fibrillation." Clinical Science 132, no. 19 (October 5, 2018): 2135–46. http://dx.doi.org/10.1042/cs20180247.

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Background: Atrial fibrillation (AF) is the most common cardiac arrhythmia whose incidence is on the rise globally. However, the pathophysiologic mechanism of AF remains poorly understood and there has been a lack of circulatory markers to diagnose and predict prognosis of AF. In the present study, by measuring metabolic profile and analyzing plasma amino acid levels in AF patients, we sought to determine whether amino acid metabolism was correlated to the occurrence of AF. Methods: Consecutive patients admitted to hospital for AF were enrolled. Plasma samples were obtained after overnight fas

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Polidori, Nella, Eleonora Agata Grasso, Francesco Chiarelli, and Cosimo Giannini. "Amino Acid-Related Metabolic Signature in Obese Children and Adolescents." Nutrients 14, no. 7 (March 30, 2022): 1454. http://dx.doi.org/10.3390/nu14071454.

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The growing interest in metabolomics has spread to the search for suitable predictive biomarkers for complications related to the emerging issue of pediatric obesity and its related cardiovascular risk and metabolic alteration. Indeed, several studies have investigated the association between metabolic disorders and amino acids, in particular branched-chain amino acids (BCAAs). We have performed a revision of the literature to assess the role of BCAAs in children and adolescents’ metabolism, focusing on the molecular pathways involved. We searched on Pubmed/Medline, including articles publishe

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