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https://www.readbyqxmd.com/read/28071971/neuropsychological-implications-of-cobalamin-c-cblc-disease-in-hispanic-children-detected-through-newborn-screening
#1
Ashley M Whitaker, Nina Hattiangadi Thomas, Lauren S Krivitzky, Can H Ficicioglu
Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner...
January 10, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28070528/methylmalonic-acidemia-diagnosis-by-laboratory-methods
#2
Keyfi Fatemeh, Talebi Saeed, Varasteh Abdol-Reza
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis...
October 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28060111/frequent-infections-hypotonia-and-anemia-in-a-breastfed-infant
#3
Fatma Kamoun, Rime Guirat, Fatma Megdich, Salma Ben Ameur, Choumous Kallel, Mongia Hachicha
Vitamin B12 deficiency may be responsible of serious hematologic and neurodevelopmental abnormalities. We report the case of an infant who was hospitalized because of recurrent infections, failure to thrive, hypotonia, and weakness. He was 8 months old and had been exclusively breastfed. Blood cell count showed pancytopenia with megaloblastic bone marrow. The serum IgG concentration was low. Vitamin B12 level was very low and associated with increased urinary methylmalonic acid. Cobalamin deficiency was caused by mother's unrecognized pernicious anemia...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28057043/rapid-healing-of-a-patient-with-dramatic-subacute-combined-degeneration-of-spinal-cord-a-case-report
#4
Florian C Roessler, Stephanie Wolff
BACKGROUND: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present, there is no consensus for diagnosis of this deficiency. Therefore, we aim to elucidate a meaningful diagnostic pathway by a case report with an initially misleading medical history. CASE PRESENTATION: A 57 year-old Caucasian man suffering from dramatic myelosis of the cervical posterior columns...
January 3, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28049986/alcoholic-myelopathy-and-nutritional-deficiency
#5
Haruki Koike, Tomohiko Nakamura, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue
A patient with chronic alcoholism presented with myelopathy and low serum folate and cobalamin levels. A 42-year-old alcoholic man had gait disturbance for 4 months. A neurological examination revealed marked spasticity with increased deep tendon reflexes and extensor plantar responses of the lower limbs. His cobalamin level was decreased and his serum folate level was particularly low. His plasma ammonia level was not increased. Abstinence and folic acid and cobalamin supplementation stopped the progression of his neurological deficits...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28045688/pseudo-thrombotic-thrombocytopenic-purpura-due-to-severe-vitamin-b12-deficiency
#6
Paul A Trubin, Justin A Edward, Monica Hand
As a subset of microangiopathic hemolytic anemia, thrombotic thrombocytopenic purpura can present with a constellation of symptoms similar to the hemolytic anemia attributed to severe vitamin B12 deficiency. There have been few case reports in the medical literature concerning the development of a clinical syndrome consistent with microangiopathic hemolytic anemia attributable to B12 deficiency. We report a case of B12 deficiency leading to microangiopathic hemolytic anemia that was corrected solely with a ten-day course of intramuscular cobalamin replacement...
November 2016: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28040895/biosynthesis-of-branched-alkoxy-groups-iterative-methyl-group-alkylation-by-a-cobalamin-dependent-radical-sam-enzyme
#7
Yuanyou Wang, Bastien Schnell, Sascha Baumann, Rolf Müller, Tadhg P Begley
The biosynthesis of branched alkoxy groups like the unique t-butyl group found in a variety of natural products, is still poorly understood. Recently, cystobactamids were isolated and identified from Cystobacter sp as novel antibacterials. These metabolites contain an isopropyl group proposed to be formed using CysS, a cobalamin-dependent radical S-adenosylmethionine (SAM) methyltransferase. Here, we reconstitute the CysS-catalyzed reaction and demonstrate that it not only performs sequential methylations of a methyl group to form isopropyl groups but remarkably also t-butyl groups on p-aminobenzoate thioester substrates...
December 31, 2016: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28034892/how-i-treat-anemia-in-pregnancy-iron-cobalamin-and-folate
#8
Maureen M Achebe, Anat Gafter-Gvili
Anemia of pregnancy is considered a global health problem, affecting almost 50% of pregnant women. Anemia is an important risk factor for both fetal and maternal morbidity. The purpose of this article is to discuss diagnosis and management of the most frequent causes of anemia in pregnancy: iron, cobalamin and folate deficiencies. This paper considers three clinical cases. Iron deficiency is the most common cause. The laboratory tests that define iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates and the literature addressing the efficacy and safety of intravenous iron in pregnancy are reviewed...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/28028206/two-distinct-pools-of-b12-analogs-reveal-community-interdependencies-in-the-ocean
#9
Katherine R Heal, Wei Qin, Francois Ribalet, Anthony D Bertagnolli, Willow Coyote-Maestas, Laura R Hmelo, James W Moffett, Allan H Devol, E Virginia Armbrust, David A Stahl, Anitra E Ingalls
Organisms within all domains of life require the cofactor cobalamin (vitamin B12), which is produced only by a subset of bacteria and archaea. On the basis of genomic analyses, cobalamin biosynthesis in marine systems has been inferred in three main groups: select heterotrophic Proteobacteria, chemoautotrophic Thaumarchaeota, and photoautotrophic Cyanobacteria. Culture work demonstrates that many Cyanobacteria do not synthesize cobalamin but rather produce pseudocobalamin, challenging the connection between the occurrence of cobalamin biosynthesis genes and production of the compound in marine ecosystems...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27951467/cobalamin-independent-methionine-synthase-distribution-and-influence-on-vitamin-b12-growth-requirements-in-marine-diatoms
#10
Kelsey A Ellis, Natalie R Cohen, Carly Moreno, Adrian Marchetti
The requirement for cobalamin (vitamin B12) in microalgae is primarily a function of the type of methionine synthase present within their gene repertoires. Our study validates this concept through analysis of the distribution of B12-independent methionine synthase in ecologically relevant diatom genera, including the closely related bloom-forming genera Pseudo-nitzschia and Fragilariopsis. Growth and gene expression analysis of the vitamin B12-requiring version of the methionine synthase enzyme, METH, and the B12-independent version, METE, demonstrate that it is the presence of the METE gene which allows Fragilariopsis cylindrus to grow in the absence of B12...
October 25, 2016: Protist
https://www.readbyqxmd.com/read/27935592/molecular-insights-into-a-dinoflagellate-bloom
#11
Weida Gong, Jamie Browne, Nathan Hall, David Schruth, Hans Paerl, Adrian Marchetti
In coastal waters worldwide, an increase in frequency and intensity of algal blooms has been attributed to eutrophication, with further increases predicted because of climate change. Yet, the cellular-level changes that occur in blooming algae remain largely unknown. Comparative metatranscriptomics was used to investigate the underlying molecular mechanisms associated with a dinoflagellate bloom in a eutrophied estuary. Here we show that under bloom conditions, there is increased expression of metabolic pathways indicative of rapidly growing cells, including energy production, carbon metabolism, transporters and synthesis of cellular membrane components...
December 9, 2016: ISME Journal
https://www.readbyqxmd.com/read/27925712/quantitative-assessment-of-nutrition-in-patients-with-polycystic-ovary-syndrome-pcos
#12
Małgorzata Szczuko, Magdalena Skowronek, Marta Zapałowska-Chwyć, Andrzej Starczewski
Background: PCOS (polycystic ovary syndrome) is called a pathology of the XX century and affects at least 10-15% women of childbearing age. The therapy involves pharmacotherapy of hormonal imbalance, as well as the change of lifestyle, including the diet. Objective: Performing the quantitative assessment of components of diets of women with PCOS, comparing the results with current dietary standards for Polish people and defining dietary requirements for the patients...
2016: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/27916904/impact-of-pre-pregnancy-bmi-on-b-vitamin-and-inflammatory-status-in-early-pregnancy-an-observational-cohort-study
#13
Anne-Lise Bjørke-Monsen, Arve Ulvik, Roy M Nilsen, Øivind Midttun, Christine Roth, Per Magnus, Camilla Stoltenberg, Stein Emil Vollset, Ted Reichborn-Kjennerud, Per Magne Ueland
Maternal nutrition and inflammation have been suggested as mediators in the development of various adverse pregnancy outcomes associated with maternal obesity. We have investigated the relation between pre-pregnancy BMI, B vitamin status, and inflammatory markers in a group of healthy pregnant women. Cobalamin, folate, pyridoxal 5'-phosphate, and riboflavin; and the metabolic markers homocysteine, methylmalonic acid, and 3-hydroxykynurenine/xanthurenic acid ratio (HK/XA); and markers of cellular inflammation, neopterin and kynurenine/tryptophan ratio (KTR) were determined in pregnancy week 18 and related to pre-pregnancy body mass index (BMI), in 2797 women from the Norwegian Mother and Child Cohort Study (MoBa)...
November 30, 2016: Nutrients
https://www.readbyqxmd.com/read/27916823/vitamin-b12-among-vegetarians-status-assessment-and-supplementation
#14
REVIEW
Gianluca Rizzo, Antonio Simone Laganà, Agnese Maria Chiara Rapisarda, Gioacchina Maria Grazia La Ferrera, Massimo Buscema, Paola Rossetti, Angela Nigro, Vincenzo Muscia, Gaetano Valenti, Fabrizio Sapia, Giuseppe Sarpietro, Micol Zigarelli, Salvatore Giovanni Vitale
Cobalamin is an essential molecule for humans. It acts as a cofactor in one-carbon transfers through methylation and molecular rearrangement. These functions take place in fatty acid, amino acid and nucleic acid metabolic pathways. The deficiency of vitamin B12 is clinically manifested in the blood and nervous system where the cobalamin plays a key role in cell replication and in fatty acid metabolism. Hypovitaminosis arises from inadequate absorption, from genetic defects that alter transport through the body, or from inadequate intake as a result of diet...
November 29, 2016: Nutrients
https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#15
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27898054/refined-experimental-annotation-reveals-conserved-corrinoid-autotrophy-in-chloroform-respiring-dehalobacter-isolates
#16
Po-Hsiang Wang, Shuiquan Tang, Kayla Nemr, Robert Flick, Jun Yan, Radhakrishnan Mahadevan, Alexander F Yakunin, Frank E Löffler, Elizabeth A Edwards
Two novel chlorinated alkane-respiring Dehalobacter restrictus strains CF and DCA were isolated from the same enrichment culture, ACT-3, and characterized. The closed genomes of these highly similar sister strains were previously assembled from metagenomic sequence data and annotated. The isolation of the strains enabled experimental verification of predicted annotations, particularly focusing on irregularities or predicted gaps in central metabolic pathways and cofactor biosynthesis. Similar to D. restrictus strain PER-K23, strains CF and DCA require arginine, histidine and threonine for growth, although the corresponding biosynthesis pathways are predicted to be functional...
November 29, 2016: ISME Journal
https://www.readbyqxmd.com/read/27893837/cell-type-specific-modulation-of-cobalamin-uptake-by-bovine-serum
#17
Hua Zhao, Kalani Ruberu, Hongyun Li, Brett Garner
Tracking cellular 57Co-labelled cobalamin (57Co-Cbl) uptake is a well-established method for studying Cbl homeostasis. Previous studies established that bovine serum is not generally permissive for cellular Cbl uptake when used as a supplement in cell culture medium, whereas supplementation with human serum promotes cellular Cbl uptake. The underlying reasons for these differences are not fully defined. In the current study we address this question. We extend earlier observations by showing that fetal calf serum inhibits cellular 57Co-Cbl uptake by HT1080 cells (a fibrosarcoma-derived fibroblast cell line)...
2016: PloS One
https://www.readbyqxmd.com/read/27884837/characteristic-peripheral-blood-smear-findings-in-disorders-of-cobalamin-metabolism
#18
Hojun Li, Colin Sieff
No abstract text is available yet for this article.
November 24, 2016: Blood
https://www.readbyqxmd.com/read/27879450/human-placental-arterial-distensibility-birth-weight-and-body-size-are-positively-related-to-fetal-homocysteine-concentration
#19
Stephen W D'Souza, Nita Solanky, Jane Guarino, Stuart Moat, Colin P Sibley, Michael Taggart, Jocelyn D Glazier
Methionine demethylation during metabolism generates homocysteine (Hcy) and its remethylation requires folate and cobalamin. Elevated Hcy concentrations are associated with vascular-related complications of pregnancy, including increased vascular stiffness, predictive of clinical vascular disease. Maternal and fetal total Hcy (tHcy) concentrations are positively related, yet the influence of Hcy on fetoplacental vascular function in normal pregnancy has not been examined. We hypothesized that Hcy alters fetoplacental vascular characteristics with influences on fetal growth outcomes...
November 21, 2016: Reproductive Sciences
https://www.readbyqxmd.com/read/27876471/cobalamin-and-folate-protect-mitochondrial-and-contractile-functions-in-a-murine-model-of-cardiac-pressure-overload
#20
Jérôme Piquereau, Maryline Moulin, Giada Zurlo, Philippe Mateo, Mélanie Gressette, Jean-Louis Paul, Christophe Lemaire, Renée Ventura-Clapier, Vladimir Veksler, Anne Garnier
PGC-1α, a key regulator of energy metabolism, seems to be a relevant therapeutic target to rectify the energy deficit observed in heart failure (HF). Since our previous work has shown positive effects of cobalamin (Cb) on PGC-1α cascade, we investigate the protective role of Cb in pressure overload-induced myocardial dysfunction. Mice were fed with normal diet (ND) or with Cb and folate supplemented diet (SD) 3weeks before and 4weeks after transverse aortic constriction (TAC). At the end, left ventricle hypertrophy and drop of ejection fraction were significantly lower in SD mice than in ND mice...
November 20, 2016: Journal of Molecular and Cellular Cardiology
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