Bibliographies thématiques / Cobalamin deficiency

Sommaire

Articles de revues
Thèses
Livres
Chapitres de livres
Actes de conférences
Rapports d'organisations

Littérature scientifique sur le sujet « Cobalamin deficiency »

Auteur : Grafiati

Publié le 1 février 2025

Créez une référence correcte selon les styles APA, MLA, Chicago, Harvard et plusieurs autres

Choisissez une source :

Consultez les listes thématiques d’articles de revues, de livres, de thèses, de rapports de conférences et d’autres sources académiques sur le sujet « Cobalamin deficiency ».

À côté de chaque source dans la liste de références il y a un bouton « Ajouter à la bibliographie ». Cliquez sur ce bouton, et nous générerons automatiquement la référence bibliographique pour la source choisie selon votre style de citation préféré : APA, MLA, Harvard, Vancouver, Chicago, etc.

Vous pouvez aussi télécharger le texte intégral de la publication scolaire au format pdf et consulter son résumé en ligne lorsque ces informations sont inclues dans les métadonnées.

Articles de revues sur le sujet "Cobalamin deficiency"

Pavlov, Ch S., I. V. Damulin, Yu O. Shulpekova et E. A. Andreev. « Neurological disorders in vitamin B12 deficiency ». Terapevticheskii arkhiv 91, n^o 4 (15 avril 2019) : 122–29. http://dx.doi.org/10.26442/00403660.2019.04.000116.

Texte intégral

Résumé :

The review discusses thesteps of vitamin B12 metabolism and its role in maintaining of neurological functions. The term "vitamin B12 (cobalamin)" refers to several substances (cobalamins) of a very similar structure. Cobalamin enters the body with animal products. On the peripherу cobalamin circulates only in binding with proteins transcobalamin I and II (complex cobalamin-transcobalamin II is designated as “holotranscobalamin”). Holotranscobalamin is absorbed by different cells, whereas transcobalamin I-binded vitamin B12 - only by liver and kidneys. Two forms of cobalamin were identified as coenzymes of cellular reactions which are methylcobalamin (in cytoplasm) and hydroxyadenosylcobalamin (in mitochondria). The main causes of cobalamin deficiency are related to inadequate intake of animal products, autoimmune gastritis, pancreatic insufficiency, terminal ileum disease, syndrome of intestinal bacterial overgrowth. Relative deficiency may be seen in excessive binding of vitamin B12 to transcobalamin I. Cobalamin deficiency most significantly affects functions of blood, nervous system and inflammatory response. Anemia occurs in 13-15% of cases; macrocytosis is an early sign. The average size of neutrophils and monocytes is the most sensitive marker of megaloblastic hematopoiesis. The demands in vitamin B12 are particularly high in nervous tissue. Hypovitaminosis is accompanied by pathological lesions both in white and gray brain matter. Several types of neurological manifestations are described: subacute combined degeneration of spinal cord (funicular myelinosis), sensomotor polyneuropathy, optic nerve neuropathy, cognitive disorders. The whole range of neuropsychiatric disorders with vitamin B12 deficiency has not been studied well enough. Due to certain diagnostic difficulties they are often regarded as "cryptogenic", "reactive", "vascular» origin. Normal or decreased total plasma cobalamin level could not a reliable marker of vitamin deficiency. In difficult cases the content of holotranscobalamin, methylmalonic acid / homocysteine, and folate in the blood serum should be investigated besides carefully analysis of clinical manifestations.

Styles APA, Harvard, Vancouver, ISO, etc.

Shaikh, Shumaila, Azhar Memon, Muhammad Atif Ata et Haji Khan Khoharo. « COBALAMIN DEFICIENCY ». Professional Medical Journal 23, n^o 02 (10 février 2016) : 176–81. http://dx.doi.org/10.29309/tpmj/2016.23.02.1064.

Texte intégral

Résumé :

Objectives: The present study aims to evaluate the serum cobalamin inHelicobacter pylori (H. pylori) infected patients. Study Design: Case control study. Place andDuration: Department of Medicine, Isra University Hospital Hyderabad from March 2013- April2014. Methodology: A sample of 109 subjects including Helicobacter pylori positive subjectsand controls were selected according to study criteria. Centrifugation of blood was performedat 4000 rpm for 10 minutes and sera were stored at -20oC. Blood sera were used for H. pyloriserological testing. Blood counting was performed on hematoanalyzer. Cobas e411 analyzerwas used for detection of cobalamin. 64 kD H. pylori antigens was detected by ELISA. Thedata was entered into SPSS version 21.0. (IBM, Incorporation, USA) A 2-tailed p-value of ≤0.05was considered significant for statistical analysis. Results: Of total 109, 54.1% (n=59) wereH. pylori seropositive cases and others were controls i.e. 45.9% (n=50). Cases and controlsshowed cobalamin levels of 290±49.3 vs. 351±32.9 pg/ml respectively (p=0.0001). Red bloodcell indices were found to show statistically significant difference between cases and controls(p=0.001). Conclusion: Serum cobalamin deficiency was noted in both Helicobacter pyloripositive and controls, however deficiency was more pronounced in Helicobacter pylori positivesubjects.

Styles APA, Harvard, Vancouver, ISO, etc.

Norman, E. J., et C. Cronin. « Cobalamin deficiency ». Neurology 47, n^o 1 (1 juillet 1996) : 310. http://dx.doi.org/10.1212/wnl.47.1.310.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Shevell, Michael I., et David S. Rosenblatt. « The Neurology of Cobalamin ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 19, n^o 4 (novembre 1992) : 472–86. http://dx.doi.org/10.1017/s0317167100041676.

Texte intégral

Résumé :

ABSTRACT:The following review indicates that the impact of cobalamin on neurologic disease extends far beyond the traditional myelopathy of classical pernicious anemia. The delineation of a broad spectrum of inherited disorders of cobalamin processing has served to illustrate and precisely define each step in the normal absorption, transport and intracellular metabolism of this essential vitamin. Recent clinical work has extended the boundaries of acquired cobalamin deficiency to encompass a variety of neuropsychiatric disturbances without identifiable concomitant hematologic derangements and emphasized the utility and sensitivity of new laboratory tests. These findings will demand increased vigilance from clinicians so that atypical and subtle cobalamin deficiency states will be readily diagnosed. The wide range of neurologic dysfunction observed in both inherited and acquired disorders of cobalamin metabolism challenges basic scientists to delineate cobalamin’s presumed important role in the normal development and homeostasis of the nervous system.

Styles APA, Harvard, Vancouver, ISO, etc.

Carmel, Ralph. « Subclinical cobalamin deficiency ». Current Opinion in Gastroenterology 28, n^o 2 (mars 2012) : 151–58. http://dx.doi.org/10.1097/mog.0b013e3283505852.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Carmel, Ralph. « Subtle Cobalamin Deficiency ». Annals of Internal Medicine 124, n^o 3 (1 février 1996) : 338. http://dx.doi.org/10.7326/0003-4819-124-3-199602010-00010.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

van Asselt, Dieneke Z. B., Chris M. G. Thomas, Martin F. G. Segers, Henk J. Blom, Ron A. Wevers et Willibrord H. L. Hoefnagels. « Cobalamin-binding proteins in normal and cobalamin-deficient older subjects ». Annals of Clinical Biochemistry : International Journal of Laboratory Medicine 40, n^o 1 (1 janvier 2003) : 65–69. http://dx.doi.org/10.1258/000456303321016187.

Texte intégral

Résumé :

Background: The causes of cobalamin (vitamin B12) deficiency in older people are only partly understood. We investigated the role of the cobalamin-binding proteins and tested the hypothesis that low saturated transcobalamin concentration is an early marker of cobalamin deficiency. Methods: We measured saturated (holo) and unsaturated (apo) transcobalamin and haptocorrin concentrations in healthy middle-aged volunteers, healthy older volunteers, cobalamin-deficient older volunteers and cobalamin-deficient older patients. Results: Holo and apo concentrations of transcobalamin and haptocorrin were similar in healthy middle-aged and older subjects. Holotranscobalamin concentrations were significantly decreased in cobalamin-deficient subjects but did not differ between healthy volunteers and patients. Furthermore, the relative amount of cobalamin on transcobalamin (i.e. holotranscobalamin/holotranscobalamin + holohaptocorrin) was similar in all four groups. Conclusions: Abnormalities of the cobalamin-binding proteins are not a cause of cobalamin deficiency in the aged. Plasma holotranscobalamin concentration did not differ between stages of cobalamin deficiency in older persons. Therefore, plasma holotranscobalamin is not an early marker of cobalamin deficiency in older people and has no additional value in the diagnostic work-up of reduced plasma cobalamin concentrations in older people.

Styles APA, Harvard, Vancouver, ISO, etc.

Bolann, Bjørn J., Jan Dag Solli, Jörn Schneede, Kjell A. Grøttum, Arne Loraas, Morgan Stokkeland, Asbjørn Stallemo et al. « Evaluation of Indicators of Cobalamin Deficiency Defined as Cobalamin-induced Reduction in Increased Serum Methylmalonic Acid ». Clinical Chemistry 46, n^o 11 (1 novembre 2000) : 1744–50. http://dx.doi.org/10.1093/clinchem/46.11.1744.

Texte intégral

Résumé :

Abstract Background: Early detection of cobalamin deficiency is clinically important, and there is evidence that such deficiency occurs more frequently than previously anticipated. However, serum cobalamin and other commonly used tests have limited ability to diagnose a deficiency state. Methods: We investigated the ability of hematological variables, serum cobalamin, plasma total homocysteine (tHcy), serum and erythrocyte folate, gastroscopy, age, and gender to predict cobalamin deficiency. Patients (n = 196; age range, 17–87 years) who had been referred from general practice for determination of serum cobalamin were studied. Cobalamin deficiency was defined as serum methylmalonic acid (MMA) >0.26 μmol/L with at least 50% reduction after cobalamin supplementation. ROC and logistic regression analyses were used. Results: Serum cobalamin and tHcy were the best predictors, with areas under the ROC curve (SE) of 0.810 (0.034) and 0.768 (0.037), respectively, but age, intrinsic factor antibodies, and gastroscopy gave additional information. Conclusions: When cobalamin deficiency is suspected in general practice, serum cobalamin should be the first diagnostic test, and the result should be interpreted in relation to the age of the patient. When a definite diagnosis cannot be reached, MMA and tHcy determination will provide additional discriminative information, but MMA, being more specific, is preferable for assessment of cobalamin status.

Styles APA, Harvard, Vancouver, ISO, etc.

Andrès, Emmanuel, Thomas Vogel, Laure Federici, Jacques Zimmer, Ecaterina Ciobanu et Georges Kaltenbach. « Cobalamin Deficiency in Elderly Patients : A Personal View ». Current Gerontology and Geriatrics Research 2008 (2008) : 1–7. http://dx.doi.org/10.1155/2008/848267.

Texte intégral

Résumé :

Cobalamin (vitamin B12) deficiency is particularly common in the elderly (>65 years of age) but is often unrecognized because its clinical manifestations are subtle; however, they are also potentially serious, particularly from a neuropsychiatric and hematological perspective. In the elderly, the main causes of cobalamin deficiency are pernicious anemia and food-cobalamin malabsorption. Food-cobalamin malabsorption syndrome is a disorder characterized by the inability to release cobalamin from food or its binding proteins. This syndrome is usually caused by atrophic gastritis, related or unrelated toHelicobacter pyloriinfection, and long-term ingestion of antacids and biguanides. Management of cobalamin deficiency with cobalamin injections is currently well documented but new routes of cobalamin administration (oral and nasal) are being studied, especially oral cobalamin therapy for food-cobalamin malabsorption.

Styles APA, Harvard, Vancouver, ISO, etc.

Rzepka, Zuzanna, Jakub Rok, Mateusz Maszczyk, Artur Beberok, Justyna Magdalena Hermanowicz, Dariusz Pawlak, Dorota Gryko et Dorota Wrześniok. « Response of Human Glioblastoma Cells to Vitamin B12 Deficiency : A Study Using the Non-Toxic Cobalamin Antagonist ». Biology 10, n^o 1 (19 janvier 2021) : 69. http://dx.doi.org/10.3390/biology10010069.

Texte intégral

Résumé :

The most important biological function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division. Cobalamin deficiency may be especially acute for rapidly dividing cells, such as glioblastoma cells. Therefore, cobalamin antagonists offer a medicinal potential for developing anti-glioma agents. In the present study, we developed an in vitro model of cobalamin deficiency in glioblastoma cells. Long-term treatment of cells with the cobalamin analogue, hydroxycobalamin [c-lactam] (HCCL) was applied to induce an increase of hypocobalaminemia biomarker. Cytometric assays demonstrated that vitamin B12 promoted glioblastoma cells proliferation, whereas the treatment of cells with HCCL caused a dramatic inhibition of cell proliferation and an induction of cell cycle arrest at the G2/M phase. Vitamin B12 counteracted all the observed effects of HCCL. In the in silico study, we characterized the molecular interactions between HCCL and transcobalamin II (TCII). We have demonstrated that HCCL shares similar interactions with TCII as naturally occurring cobalamins and therefore may act as a competitive inhibitor of this key transporter protein. We assessed the impact of HCCL on the mortality or developmental malformations of zebrafish embryos. Collectively, our findings suggest that the use of cobalamin transport antagonists as potential anti-glioma agents would be worth exploring further.

Styles APA, Harvard, Vancouver, ISO, etc.

Plus de sources

Thèses sur le sujet "Cobalamin deficiency"

Rajan, Suparna. « Screening for and treatment of cobalamin deficiency in older adults / ». Thesis, Connect to this title online ; UW restricted, 2000. http://hdl.handle.net/1773/6596.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Deribew, Henok. « The roles of bacteria in tackling folate and cobalamin deficiency : From food fermentation to the gut microbiota ». Electronic Thesis or Diss., Université de Montpellier (2022-....), 2023. http://www.theses.fr/2023UMONG036.

Texte intégral

Résumé :

Les carences en folate (vitamine B9) et en cobalamine (vitamine B12) provoquent des problèmes de santé, notamment dans les pays en développement où les régimes alimentaires à base de produits végétaux sont source de folates mais dépourvus de cobalamine. Une consommation insuffisante d'aliments d'origine animale, principale sources de cobalamine, est également préoccupante dans les pays développés en raison d’évolutions des habitudes alimentaires vers une baisse de la consommation de produits animaux pour des raisons environnementales ou éthiques. Certaines bactéries peuvent synthétiser ces vitamines lors de la fermentation alimentaire et dans le tractus digestif humain. Cependant, leur rôle dans les aliments fermentés à base de céréales et leur potentiel de production de folate dans le tractus gastro-intestinal est peu exploré. Par conséquent, cette thèse a pour objectifs d’explorer la contribution potentielle des bactéries à la diminution des carences en folates et en cobalamine. Premièrement, les teneurs en folates et en cobalamine de l'injera, un aliment de base traditionnel éthiopien à base de céréales fermentées à base de teff, ont été mesurées. Sa consommation permettrait de couvrir 5% à 23% des apports en folate recommandés pour les femmes en âge de procréer. Cependant, la cobalamine présente dans l'injera était biologiquement inactive chez les humains. Les bactéries lactiques étaient majoritaires pendant la fermentation de l'injera, et certaines espèces étaient corrélées aux taux de folate et de cobalamine. Deuxièmement, la faisabilité d'augmenter la teneur en folate et en cobalamine dans l'injera a été explorée en utilisant des souches bactériennes productrices de folate et de cobalamine a été explorée. L’utilisation individuelle de chaque souche permettait d’augmenter les taux de folate et de cobalamine dans la pâte d'injera y compris après plusieurs cycle de repiquage par pied de cuve, atteignant les apports recommandés en cobalamine et jusqu'à 29 % de folate pour les femmes. Cependant, utilisées ensemble, les souches étaient moins efficaces. Enfin, l'influence de l'alimentation et du microbiote intestinal sur le statut en folate de femmes en âge de procréer (n=10) ont été évaluées. Les participantes ont consommé pendant 3 jours de l'injera enrichi en folate par fermentation ou un régime pauvre en folate à base de riz. La consommation régulière d'injera enrichi en folate couvrait 70,1 % de l'apport en folate recommandé. Au cours de la période de régime pauvre en folate, des concentrations de folate fécaux dépassant l'apport alimentaire ont été observées, indiquant une synthèse de folates par les micro-organismes du tube digestif. Des incubations in vitro des échantillons ont également montré un potentiel variable de production de folate au cours de différentes périodes alimentaires. Cette étude a mis en évidence la relation complexe entre les micro-organismes et leur rôle potentiel dans l'amélioration du statut en folate et en cobalamine des individus
Folate (vitamin B9) and cobalamin (vitamin B12) deficiencies have significant health implications, particularly in low- and lower-middle-income countries where diets rely on starchy staple foods that offer folate but lack cobalamin. Inadequate intake of animal-sourced foods, the primary cobalamin sources, is also a concern in developed countries due to shifting dietary patterns towards plant-based diets. Certain bacteria can synthesize these vitamins in food fermentation and the human gut, yet their roles in cereal-based fermented foods and their folate-producing potential in the gut remain underexplored. Therefore, this thesis aimed to explore the potential contributions of bacteria in addressing folate and cobalamin deficiencies. First, the folate and cobalamin content of injera, a traditional Ethiopian cereal-based fermented staple food prepared from teff through backslopping fermentation, was explored, and shown that injera can provide 5% to 23% of the recommended folate intake for women of reproductive age. However, cobalamin found in injera was biologically inactive in humans. Fermentation was dominated by lactic acid bacteria and, with specific species correlating with folate and cobalamin levels. Second, the feasibility of increasing folate and cobalamin content in injera was explored using folate- and cobalamin-producing bacterial strains. Applying these strains individually significantly increased folate and cobalamin levels in injera dough over multiple backslopping rounds, meeting recommended cobalamin intake and providing up to 29% of folate for women of reproductive age. However, when used together, the strains were less efficient. The evolution of microorganisms, including those present before inoculation, potentially influenced vitamin production. Finally, the influence of diet and gut microbiota on the folate status of reproductive-age women (n=10) was assessed. Participants consumed the folate-enriched injera and a rice-based low-folate diet for 3 days in a crossover design. Regular consumption of folate-enriched injera covered 70.1% of the recommended folate intake. During the period of the low-folate diet, folate concentrations in excess of dietary intake were observed, indicating a significant contribution of microbially synthesized folate. In vitro measurements of folate concentration in fecal matter illustrated varying folate production and consumption capabilities of the gut microbiota among individuals and across different dietary folate intake periods. This study highlighted the complex relationship between microorganisms and their potential roles in improving the folate and cobalamin status of individuals

Styles APA, Harvard, Vancouver, ISO, etc.

Nilsson, Mats. « Cobalamin communication in Sweden 1990-2000 : views, knowledge and practice among Swedish physicians / ». Doctoral thesis, Umeå : Dept. of Public Health and Clinical Medicine, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-416.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Trentin, Renata. « Efeitos dos polimorfismos no gene TC2 nas concentrações dos metabólicos marcadores da deficiência de cobalamina em gestantes e seus recém nascidos ». Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/9/9136/tde-04122017-104711/.

Texte intégral

Résumé :

A transcobalamina II (TCII) é a única proteína que leva a cobalamina (Cbl) para dentro das células. A TCII ligada a Cbl é denominada Holo-TC. Polimorfismos no gene TC2 podem alterar tanto a função como a concentração de Holo-TC. Os objetivos deste estudo foram avaliar se o parâmetro Holo-TC é um bom marcador de deficiência de Cbl; avaliar o efeito dos polimorfismos TC2 P259R, I23V e Q234R nos marcadores da deficiência da Cbl; verificar os fatores de predição para os valores de tHcy, SAM/SAH, MMA e Holo-TC nas gestantes e seus recém- nascidos. A Holo-TC não foi bom marcador para discriminar as gestantes com e sem deficiência de Cbl, diferente do encontrado no grupo de recém nascidos. Os genótipos matemos para os polimorfismos TC2 P259R e I23V não foram associados com as alterações nos valores matemos de tHcy, MMA e Holo-TC. Os neonatos portadores dos genótipos PR+RR apresentaram menores valores da razão SAM/SAH e maiores de MMA. Os neonatos com genótipos 23V+23VV apresentaram menores valores de SAM e maiores valores de tHcy. A combinação dos genótipos IV+VV/PR+RR no grupo de gestantes foi associada a menores valores de SAM. Já os neonatos com a mesma combinação de genótipos apresentaram menores valores de SAM e da razão SAM/SAH. O folato sérico foi o melhor fator de predição para a variação da tHcy materna, e a Cbl para os valores de Holo-TC, e finalmente a creatinina e a Cbl foram os fatores de predição para os valores de MMA. A Cbl e o folato foram os preditores para a tHcy neonatal quando foi utilizado apenas as variáveis independentes maternas no modelo de regressão linear múltipla. No entanto, quando as variáveis independentes foram as neonatais, Cbl, folato sérico e SAM/SAH neonatais foram as selecionadas para explicar os valores de tHcy neonatal. Para os modelos neonatais de MMA, a Cbl materna foi a única selecionada quando o modelo foi feito com variáveis independentes maternas. E noutro modelo da MMA neonatal, a Cbl e o genótipo PR + RR neonatal explicaram a variabilidade do MMA neonatal. Para a razão SAM/SAH neonatal, foram o folato sérico e o genótipo RR maternos as variáveis selecionadas quando só foram colocadas as variáveis independentes maternas no modelo. E finalmente, a tHcy e genótipos PR + RR foram as variáveis neonatais selecionadas no modelo de regressão linear múltipla para a razão SAM/SAH neonatal. Podemos concluir que os genótipos para os polimorfismos TC2 P259R e I23V não estão associados a variabilidade dos valores matemos dos metabólitos, no entanto, no recém nascido esta associação foi evidenciada.
Transcobalamin II (TCII) is the only protein that can take cobalamin (Cbl) into cells. When TCII is bound to the Cbl it is called Holo-TC. Polymorphisms inTC2 gene can alter both the function and the concentration of Holo-TC. The objective of this study was to evaluate whether the parameter Holo-TC is a good Cbl deficiency marker; to evaluate the effect of the polymorphisms TC2 P259R, I23V and Q234R in the Cbl deficiency markers; to verify the prediction factors for the values of tHcy, SAM/S~ MMA and Holo-TC in pregnant women and their neonates. Holo-TC has proved not be a good marker for discriminating pregnant women with Cbl deficiency from those without Cbl deficiency, unlike what was seen in the neonatal group. Maternal genotypes for polymorphisms TC2 P259R and I23 V were not related with the alterations ofmaternal values of tHcy, MMA and Holo-TC. The neonates presenting genotypes PR+RR showed lower SAM/SAH ratio values and higher MMA values. The neonates with genotypes 23V+23VV presented lower SAM values and higher tHcy values. The combination of genotypes IV+VV/PR+RR in the group of pregnant women was related with lower SAM values. On the other hand, the neonates presenting the same combination of genotypes presented lower SAM values and SAM/SAH ratio values. Se rum folate was the best predictor for the variation of the maternal tHcy, and Cbl for the Holo-TC values. The creatinine and the Cbl were the predictors for the values of MMA. Cbl and folate were the predictors for the neonatal tHcy when only the maternal independent variables were used in the multiple linear regression model. However, when the neonatal independent variables were used, Cbl, serum folate and SAM/SAH of neonates were selected to explain the neonatal tHcy values. For the neonatal models of MMA, only the maternal Cbl was selected for the model with maternal independent variables. In another neonatal MMA model, Cbl and neonatal PR + RR genotype explained the variability of the neonatal MMA. For the neonatal SAM/SAH ratio, serum folate and maternal RR genotype were the variables selected when only the maternal independent variables were used in the model. Finally, tHcy and genotypes PR + RR were the neonatal variables selected in the multiple linear regression model for the neonatal SAM/SAH ratio. We have concluded that the genotypes for the polymorphisms TC2 P25 9R and I23 V are not related to the variability of the maternal values of the metabolites; however, this relation is clear when evaluating the values observed in their newborn babies.

Styles APA, Harvard, Vancouver, ISO, etc.

Björkegren, Karin. « Studies on Vitamin B12 and Folate Deficiency Markers in the Elderly : A Population-based Study ». Doctoral thesis, Uppsala University, Department of Public Health and Caring Sciences, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3364.

Texte intégral

Résumé :

The aims of this study were to document the levels of cobalamin, folate, methylmalonic acid (MMA) and total homocysteine (tHcy) in serum and their relations to symptoms, clinical findings, and other factors in order to improve the possibilities of detecting early deficiency of vitamin B12 or folate, and to study the effects of cobalamin and folic acid treatment over a three-year period.

The study population consisted of a 20% random sample of persons 70 years or older living in Älvkarleby in mid-Sweden. They were invited to a survey and 224 (88.4%) persons responded. Data were obtained by questionnaire, laboratory investigations and physical examination for the period 1993 – 1999.

In a multivariate analysis performed at baseline, serum MMA and tHcy were significantly and independently correlated to age, serum cobalamin, and creatinine levels, and tHcy also to sex and serum folate. Neither serum cobalamin, folate, MMA nor tHcy had any significant correlation to haemoglobin or mean red cell volume. Almost half of the study population had signs of low tissue levels of vitamin B12 or folate. Among those who took multivitamin preparations, the proportion was much lower, 25%.

Among traditional symptoms and clinical findings that have been linked to vitamin B12 or folate tissue deficiency, only changes in the tongue mucosa and mouth angle stomatitis were significantly associated with abnormal serum folate and tHcy levels. Traditional symptoms of vitamin deficiency may appear later in the course.

69 persons who had laboratory indications of early or overt tissue deficiency of vitamin B12 or folate and who had no ongoing vitamin treatment were given cobalamin for six months. Those whose MMA or tHcy levels did not normalise were given folic acid in addition to cobalamin. After further treatment for three months, all persons but one had normal levels. The laboratory effect still remained after three years of treatment. There was a tendency towards improvement of vibration sense, especially in the long nerve paths, and improvement of neurological symptoms and oral mucosa findings.

Conclusion: A substantial proportion of elderly persons have laboratory signs of incipient tissue deficiency of vitamin B12 and folate. Treatment normalises lab parameters and some symptoms.

Styles APA, Harvard, Vancouver, ISO, etc.

Showemimo, Opeyemi F. « Vitamin B12 Deficiency Does Not Stimulate Amyloid-beta Toxicity in a Ceanorhabditis elegans Model of Alzheimer’s Disease ». Digital Commons @ East Tennessee State University, 2021. https://dc.etsu.edu/etd/3869.

Texte intégral

Résumé :

Alzheimer’s disease (AD) is symptomized by amyloid-beta plaques in the brain and accounts for more than 65 percent of dementia cases. Vitamin B12 (cobalamin) deficiency can result in similar cognitive impairment and roughly 15% of the elderly are vitamin B12 deficient. Vitamin B12 deficiency results in the accumulation of toxic methylmalonic acid and homocysteine. Hyperhomocysteinemia is a strong risk factor for AD. To test if vitamin B12 deficiency stimulates amyloid-beta toxicity, Caenorhabditis elegans expressing amyloid-beta in muscle were fed either vitamin B12-deficient OP50-1 or vitamin B12-rich HT115(DE3) E. coli bacteria. Increased amyloid-beta toxicity was found in worms fed the 0P50-1 diet. Supplementation of the OP50-1 diet with vitamin B12 did not rescue the increased C. elegans toxicity. Knockdown of either of the only two C. elegans vitamin B12-dependent enzymes metr-1 or mmmc-1 protected against toxicity. Therefore, vitamin B12 deficiency does not stimulate Alzheimer’s amyloid-beta-mediated toxicity in C. elegans.

Styles APA, Harvard, Vancouver, ISO, etc.

Hannibal, Luciana. « Intracellular Processing of Cobalamins in Mammalian Cells ». Kent State University / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=kent1247938485.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Favaro, Patricia Barbosa. « Associação entre deficiência de cobalamina e folato e presença dos polimorfismos MTR A2756C e MTRR A66G em gestantes e seus recém nascidos ». Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/9/9136/tde-12012018-095817/.

Texte intégral

Résumé :

A metionina sintase redutase (MTRR) catalisa a redução da cobalamina (Cbl) oxidada a metilcobalamina. Em presença de folato, a metionina sintase (MTR) utiliza a metilcobalamina como cofator na metilação da homocisteína (tHcy) a metionina. O objetivo deste estudo foi avaliar os efeitos dos polimorfismos MTR A2756G e MTRR A66G nas concentrações dos metabólitos marcadores de deficiência de Cbl e folato em gestantes e neonatos. Os genótipos dos polimorfismos MTR A2756G e MTRR A66G foram obtidos por PCR-RFLP. O genótipo MTR 2756AA foi relacionado aos maiores valores de tHcy em gestantes e MMA em neonatos. Gestantes com genótipos MTRR 66AG e GG e com menores concentrações de Cbl apresentaram maior risco de apresentar concentrações elevadas de tHcy. Neonatos com genótipos com MTRR 66AG e GG apresentaram menores valores de SAM. Os polimorfismos MTR A2756G e MTRR A66G interferem nas reações dependentes de Cbl e folato em gestantes e neonatos.
Methionine synthase reductase (MTRR) catalyzes the reductive reaction of oxidized cobalamin to methylcobalamin. When folate is present, methionine synthase (MTR) uses methylcobalamin cofactor at homocysteine to methionine methylation process. The aim of this study was to evaluate the effects of MTR A2756G and MTRR A66G polymorphisms on total homocysteine (tHcy), methylmalonic acid (MMA), S-adenosylmethionine (SAM) concentrations and SAM/SAH ratio in Brazilian pregnant women and their newborns. Genotypes of two polymorphisms were determined by PCR-RFLP. MTR 2756AA genotype was associated with higher tHcy and MMA levels in mothers and babies, respectivelly. Lower cobalamin concentrations associated with MTRR 66AG and GG genotypes increased risk to elevated tHcy levels in pregnant women. The SAM levels were lower in neonates with MTRR 66AG e GG genotypes. The polymorphisms MTR A2756G and MTRR A66G could affect cobalamin and folate dependent reactions in pregnant women and newborns.

Styles APA, Harvard, Vancouver, ISO, etc.

Jeandel, Manon. « Interactome de la méthionine synthase et compartimentation de la synthèse de méthionine ». Electronic Thesis or Diss., Université de Lorraine, 2024. http://www.theses.fr/2024LORR0135.

Texte intégral

Résumé :

La régulation de l’expression des gènes dépend de modifications épigénétiques affectant les acides nucléiques et les histones. La modification la plus étudiée est la méthylation qui requière la S-adénosyl-méthionine (SAM) comme donneur de groupement méthyle. Ce métabolite crucial est produit durant le métabolisme des monocarbones où la méthionine synthase (MS) joue un rôle central à l’interface entre le cycle des folates et le cycle de la méthionine. En effet, la MS, une enzyme strictement cytosolique, catalyse la reméthylation de l’homocystéine pour former la méthionine, le précurseur de la SAM, en utilisant le 5-méthyltétrahydrofolate (5meTHF) et la vitamine B12 comme cofacteur. Des erreurs acquises ou innées du métabolisme des monocarbones associés à des dysfonctionnements de l’activité de la MS induisent une diminution de la synthèse de méthionine et de SAM ayant pour conséquence des altérations épigénétiques malgré la présence de méthionine exogène. Ceci suggère une utilisation préférentielle de la méthionine produite de novo pour la synthèse de SAM ainsi qu'une production locale de métabolites, une localisation nucléaire de la MS et de nouvelles interactions protéine-protéine impliquant les méthionine adénosyl transférases (MAT) responsables de la synthèse de SAM. Nous avons émis l’hypothèse que le cycle de la méthionine pourrait aussi être présent dans le noyau pour permettre une synthèse in situ de méthionine et de SAM directement où la méthylation est nécessaire. Nous avons étudié la localisation, l’activité enzymatique et les potentielles interactions protéine-protéine impliquant la MS dans le cytoplasme et dans le noyau des cellules HepG2, ainsi que sur des fibroblastes contrôles et de patients présentant des mutations génétiques affectant l’activité de la MS. Nos résultats montrent que la MS, habituellement décrite dans le cytoplasme est aussi localisée dans le noyau où elle interagit avec la sous-unité catalytique MATα2 et l’ADN méthyltransférase DNMT3b. La preuve expérimentale de l’activité de la MS dans le compartiment nucléaire, ces nouvelles interactions protéine-protéine entre la MS, une enzyme productrice de SAM et une autre utilisant la SAM pour la méthylation de l’ADN supportent l’idée d’une compartimentation spatiale des voies métaboliques pouvant jouer un rôle dans la régulation dynamique de l’épigénome. Notre étude ouvre donc de nouvelles perspectives dans la compréhension des modifications épigénomiques impliquées dans la régulation de l’expression des gènes
The regulation of gene expression depends on epigenetic modifications of nucleic acids and histones. The most studied modification is the methylation that requires S-adenosyl-methionine (SAM) as methyl donor. This crucial metabolite is a product of the one-carbon metabolism, where methionine synthase (MS) plays a central role at the crossroad of folate and methionine cycles. MS, a strictly cytosolic enzyme, catalyzes the remethylation of homocysteine to produce methionine, the precursor of SAM, using 5-methyltetrahydrofolate (5meTHF) and vitamin B12 as a cofactor. Acquired or inherited disorders of one-carbon metabolism associated with impaired methionine synthase activity, lead to decreased synthesis of both methionine and SAM, with subsequent epigenetic alterations, despite the presence of exogenous methionine. This suggests a preferential use of de novo produced methionine for SAM synthesis as well as local production of metabolites, nuclear localisation of MS and novel protein-protein interactions involving the methionine adenosyl transferases (MATs) responsible for SAM synthesis. We hypothesised that the methionine cycle could also be present in the nucleus to allow in situ synthesis of methionine and SAM directly where methylation is required. We studied the localisation, enzymatic activity and potential protein-protein interactions involving MS in the cytoplasm and nucleus of HepG2 cells, as well as in control fibroblasts and fibroblasts from patients with genetic mutations affecting MS activity. Our results show that MS, usually described exclusively in the cytoplasm, is also located in the nucleus where it interacts with the catalytic subunit MATα2 and the DNA methyltransferase DNMT3b. The experimental evidence of MS activity in the nuclear compartment, these novel protein-protein interactions between MS, a SAM-producing enzyme and a SAM-user enzyme for DNA methylation support the idea of spatial compartmentalisation of metabolic pathways may play a role in the dynamic regulation of the epigenome. Our study therefore opens up new perspectives in the understanding of the epigenomic modifications involved in regulating gene expression

Styles APA, Harvard, Vancouver, ISO, etc.

Barão, Rafael Correia. « Spectrum of Ophthalmological Manifestations of Early-Onset Cobalamin C Deficiency ». Master's thesis, 2017. http://hdl.handle.net/10316/81940.

Texte intégral

Résumé :

Trabalho de Projeto do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina
Introdução: O défice de cobalamina C é uma doença autossómica recessiva do metabolismo intracelular da vitamina B12 causada por mutações no gene MMACHC que levam a acidúria metilmalónica com homocistinúria. A maioria dos doentes têm doença de início precoce com manifestações oftalmológicas graves, assim como alterações neurológicas e outras manifestações sistémicas. Objectivo: Explorar e detalhar o fenótipo oftalmológico de uma série de doentes com défice de cobalamina C de início precoce. Tipo de estudo: série de casos retrospetiva. Materiais e métodos: Sete doentes foram diagnosticados precocemente através de testes bioquímicos e genéticos e seguidos no Centro de Neurodesenvolvimento e Doenças Metabólicas do Hospital Pediátrico de Coimbra e na Clínica de Oftalmologia do Centro Cirúrgico de Coimbra. A observação oftalmológica incluiu melhor acuidade visual corrigida, biomicroscopia e fundoscopia com dilatação, retinografia de wide-field, ERG, OCT e autofluorescência do fundo. Resultados: Todos os doentes foram diagnosticados no período neonatal e eram homozigóticos para a mutação c.271dupA (p.R91KfsX14). Todos apresentaram alterações neurológicas, atraso do desenvolvimento e achados oftalmológicos. A idade na primeira observação oftalmológica variou entre 2 e 6 meses. Baixa acuidade visual, nistagmo e maculopatia foram universais, enquanto que estrabismo, alterações pigmentares da retina da média periferia, atrofia óptica e alterações vasculares foram frequentes. Todos os doentes seguidos para além dos dois anos de idade desenvolveram lesões maculares atróficas graves, como lesão em alvo ou pseudo-coloboma. Alterações na FAF incluíram hipoautofluorescência macular e ilhas variáveis de hiper/hipoautofluorescência com tendência a progredir com a gravidade da doença. A OCT revelou redução da espessura da retina e desorganização variável das camadas retinianas. Os resultados electrofisiológicos foram altamente variáveis. Em nenhum dos doentes foi atingido controlo metabólico óptimo, embora se tenham registado melhorias em doentes que receberam terapêutica adequada. Conclusões: Todos os doentes apresentaram alterações degenerativas precoces e progressivas da mácula e/ou da retina periférica e perturbações neurológicas apesar de tratamento precoce e alguma melhoria metabólica. Maculopatia de início precoce, particularmente quando estão presentes alterações atróficas graves, pode ser uma pista valiosa para o diagnóstico de défice de cobalamina C, especialmente em locais onde o rastreio neonatal não está disponível. Uma vez que o regime terapêutico actualmente preconizado é incapaz de prevenir doença ocular e manifestações neurológicas, são necessárias novas abordagens terapêuticas.
Introduction: Cobalamin C deficiency is an autosomal recessive disorder of intracellular vitamin B12 metabolism caused by MMACHC gene mutations that leads to combined methylmalonic aciduria and homocystinuria. The majority of patients have early-onset disease with severe ophthamological manifestations as well as neurological impairment and other systemic manifestations. Purpose: To explore and detail the ophthalmological phenotype of a series of early-onset cobalamin C deficiency patients. Design: retrospective case series. Materials and methods: Seven patients were diagnosed at an early age using biochemical and genetic testing and followed at the Centre of Neurodevelopment and Metabolic Diseases at Pediatric Hospital of Coimbra and the Ophthamology Clinic of Centro Cirúrgico de Coimbra. Ophthamological examination included best-corrected visual acuity, slit-lamp and dilated fundus examination, wide-field retinal photography, ERG, OCT and FAF imaging. Results: All patients were diagnosed in the neonatal period and were homozygous for the c.271dupA (p.R91KfsX14) mutation. All presented with neurological impairment, developmental delay and exhibited ophthalmological findings. Age at initial ocular examination ranged from 2 to 6 months. Decreased visual acuity, nystagmus, and maculopathy were universal, while strabismus, retinal pigmentary changes, optic pallor and vascular changes were frequent. All patients who were followed past two years of age developed severe macular atrophic lesions, such as bull’s eye or macular coloboma-like lesion. FAF changes include macular hypoautofluorescence and variable islands of hyper/hypoautofluorescence that tend to progress with disease severity. OCT scans showed retinal thinning and variable layer disorganization. ERG results were highly variable. Optimal metabolic control was not achieved in any of the patients, although there were some improvements in patients receiving adequate therapy. Conclusions: All patients suffered from early and progressive macular and/or peripheral retinal degenerative changes and neurological impairment despite early treatment and some metabolic improvement. Early-onset maculopathy, particularly when severe atrophic changes are present, may be a valuable clue to the diagnosis of cobalamin C deficiency, especially in settings where newborn screening is unavailable. Since current proposed treatment regimen is unable to prevent ocular disease and neurological manifestations, new therapeutic approaches are in need.

Styles APA, Harvard, Vancouver, ISO, etc.

Livres sur le sujet "Cobalamin deficiency"

Babior, Bernard M. Cobalamin : Biochemistry and pathophysiology. New York : J. Wiley & Sons, 1988.

Trouver le texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

1938-, Zittoun J., et Cooper B. A. 1928-, dir. Folates and cobalamins. Berlin : Springer-Verlag, 1989.

Trouver le texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Amouzou, Kou'santa Sabiba. Evaluation des marqueurs nutritionnels et génétiques du statut en coenzymes B (cobalamines et folates) et de l'homocystéinemie plasmatique dans une population d'Afrique de l'Ouest (Benin-Togo). Lomé : [s.n., 2003.

Trouver le texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Fraser, Jamie L., Frédéric Sedel et Charles P. Vendetti. Disorders of Cobalamin and Folate Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0027.

Texte intégral

Résumé :

Cobalamin C deficiency (cblC) and related disorders of intracellular cobalamin metabolism may present at any time from the prenatal period through adolescence/adulthood and are due to deficiency of the cobalamin cofactors adenosylcobalamin and methylcobalamin. Chronic complications of cblC depend on the age at presentation and may include poor growth, renal dysfunction, neuropsychiatric manifestations, intellectual disability, strokes, progressive leukoencephalopathy and spinal cord degeneration, psychiatric manifestations and executive function deficits, and optic nerve and retinal anomalies. While less common than in isolated MMA, acute metabolic decompensation may occur in cblC patients due to accumulation of methylmalonic acid and associate metabolites and should be managed as in isolated MMA in conjunction with a metabolic consultant. The most common inborn error of folate (vitamin B9) metabolism relevant for adult patients is methylenetetrahydrofolate reductase (MTHFR) deficiency. Manifestations are primarily neurological, but the disorder may present in a substantial number of adults with psychiatric symptoms. Early recognition with adequate treatment is crucial.

Styles APA, Harvard, Vancouver, ISO, etc.

Genetic mapping of cobalamin C deficiency : Linkage to chromosome 1p32-34. Ottawa : National Library of Canada, 2003.

Trouver le texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Blom, Henk J., Mirian C. H. Janssen et Manuel Schiff. Cystathionine Beta-Synthase Deficiency or Classical Homocystinuria. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0019.

Texte intégral

Résumé :

Inherited homocystinurias have in common accumulation of homocysteine and encompass two distinctive entities: classical homocystinuria due to cystathionine β‎-synthase (CBS) deficiency and the rare inborn errors of cobalamin and folate metabolism. The natural history of CBS deficiency, the subject of this chapter, is well described compared to the other forms of homocystinurias. Untreated patients may be asymptomatic or have one or more of the following symptoms: severe mental handicaps, psychiatric disturbances, ectopia lentis, osteoporosis, Marfanoid habitus, or thromboembolic complications. Current treatment options are based on therapy with vitamin B6, folate, B12, or betaine and institution of a protein- or methionine-restricted diet.

Styles APA, Harvard, Vancouver, ISO, etc.

Chapitres de livres sur le sujet "Cobalamin deficiency"

Herrmann, Wolfgang, et Rima Obeid. « Cobalamin Deficiency ». Dans Subcellular Biochemistry, 301–22. Dordrecht : Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-2199-9_16.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Antony, Asók C. « Vitamin-B12 (Cobalamin) and Folate Deficiency ». Dans Concise Guide to Hematology, 44–61. Oxford, UK : Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444345254.ch6.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Antony, Aśok C. « Vitamin B12 (Cobalamin) and Folate Deficiency ». Dans Concise Guide to Hematology, 37–48. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-97873-4_6.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Abu-El-Haija, Aya, Bryce A. Mendelsohn, Jacque L. Duncan, Anthony T. Moore, Orit A. Glenn, Kara Weisiger et Renata C. Gallagher. « Cobalamin D Deficiency Identified Through Newborn Screening ». Dans JIMD Reports, 73–77. Berlin, Heidelberg : Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_126.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Eltorai, Ibrahim M. « Subacute Combined Degeneration Provoked by Nitrous Oxide Anethesia Patients with Cobalamin Deficiency ». Dans Rare Diseases and Syndromes of the Spinal Cord, 143–46. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-45147-3_47.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. « Cobalamine Deficiency ». Dans Encyclopedia of Molecular Mechanisms of Disease, 377–78. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_363.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. « Cobalamine Reductase Deficiency ». Dans Encyclopedia of Molecular Mechanisms of Disease, 378–80. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_364.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Brocker, P., et J. C. Lods. « Folate Deficiency in Geriatric Patients ». Dans Folates and Cobalamins, 179–89. Berlin, Heidelberg : Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-74364-1_14.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Metz, J. « Folate Deficiency During Pregnancy and Lactation ». Dans Folates and Cobalamins, 161–70. Berlin, Heidelberg : Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-74364-1_12.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Rain, J. D., I. Blot et G. Tchernia. « Folic Acid Deficiency in Developing Nations ». Dans Folates and Cobalamins, 171–77. Berlin, Heidelberg : Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-74364-1_13.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Actes de conférences sur le sujet "Cobalamin deficiency"

Weißenborn, Christian, Benjamin Giszas, Andreas Stallmach et Philipp Reuken. « Patients with Liver cirrhosis suffer from functional cobalamin deficiency despite sufficient cobalamin serum levels ». Dans 40. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2024. http://dx.doi.org/10.1055/s-0043-1777576.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Engel, Sarah, Salman Rashid, Ali Beshri et Amitha Ananth. « Cobalamin C Deficiency, an Inborn Error of Metabolism presenting with Subacute Neuropsychiatric Symptoms (P9-4.001) ». Dans 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202441.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Krieger, Rachel, Lou Ann Brown, Carlton Dampier, Frank Harris, Shaminy Manoranjithan, Reshika Mendis, Nicholas Cooper, Janet Figueroa et Claudia R. Morris. « Cobalamin Deficiency In Children With Sickle Cell Disease : An Unanticipated Risk For Use Of Nitrous Oxide Gas ». Dans AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.276.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Azevedo, Ruan Gambardella Rosalina de, Adriel Rêgo Barbosa, Andre Felipe Candeas Amorim, Gabriel Pinheiro Martins de Almeida e. Souza, João Victor Cabral Correia Férrer, Pedro Henrique Almeida Fraiman, Márcio Pinheiro Lima et al. « Rare diagnosis of dystonia and ataxia : aceruloplasminemia ». Dans XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.586.

Texte intégral

Résumé :

Introduction: Aceruloplasminemia is a rare autosomal recessive disorder, characterized by transmembrane cerulopasmin deficiency. Impaired iron metabolism occurs, leading to its systemic accumulation, including brain. This is a case report based on retrospective analysis of a single patient’s medical record. Case report: This case reports a 57-year-old female, previously functional, with metabolic syndrome, admitted due to dystonia and ataxia with compound heterozygosis for ACP gene. Over the course of two years and six months, she manifested: depression, anedhonia, some instrumental activities limitations, plus walking and speech disturbances. Her physical examination presented disorientation in time/space, dysarthrophonia, saccadic intrusions, dysdiadocokinesia, enlarged base gait, oral dyskinesia and cervical dystonia. Brian magnetic resonance image (MRI) demonstrated GRE/SWI signal attenuation diffusely in cortex and bilaterally in lentiform and caudate nucleus. Laboratory tests: ferritin 2.540 ng/ml; serum iron 27 ug/dL; serum ceruloplasmine below 8 mg/dL; negative infectious and rheumatological serologies; normal levels of cobalamin, hemoglobin and thyroid hormones. Genetic testing confirmed compound heterozygosis for ACP gene (variant C1149 G>A |p.trp 383*), compatible with the aceruloplasminemia hypothesis. Conclusion: Attention should be drawn to this patient’s MRI showing SWI hyposignal on basal ganglia and cortex, because it’s a highly suggestive finding. Individual case reports indicate the effectiveness of Deferiprone as a treatment in individuals with aceruloplasminemia, however there is no universally accepted treatment regimen.

Styles APA, Harvard, Vancouver, ISO, etc.

Rapports d'organisations sur le sujet "Cobalamin deficiency"

Bindi, Verónica, Hernán Eiroa, Carlos Rugilo et Yeny Blanco. Deficiencia de cobalamina C de inicio temprano : presentación de caso clínico. Buenos Aires : siicsalud.com, septembre 2019. http://dx.doi.org/10.21840/siic/159788.

Texte intégral

Styles APA, Harvard, Vancouver, ISO, etc.

Nous offrons des réductions sur tous les plans premium pour les auteurs dont les œuvres sont incluses dans des sélections littéraires thématiques. Contactez-nous pour obtenir un code promo unique!