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https://www.readbyqxmd.com/read/28333089/south-asian-ethnicity-is-related-to-the-highest-risk-of-vitamin-b12-deficiency-in-pregnant-canadian-women
#1
Marta Jeruszka-Bielak, Carly Isman, Theresa H Schroder, Wangyang Li, Tim J Green, Yvonne Lamers
Vitamin B12 (B12) adequacy during pregnancy is crucial for maternal health and optimal fetal development; however, suboptimal B12 status has been reported in pregnant Canadian women. Methylmalonic acid (MMA) is a sensitive indicator of B12 status. Since few studies have measured MMA during pregnancy in Canadian women, the objective of this study was to evaluate B12 status in pregnant women living in Metro Vancouver, using both plasma total B12 and MMA. We recruited a convenience sample of 320 pregnant women between 20 and 35 gestational weeks from local healthcare facilities...
March 23, 2017: Nutrients
https://www.readbyqxmd.com/read/28330909/vitamin-b-12-status-in-infancy-is-positively-associated-with-development-and-cognitive-functioning-5-y-later-in-nepalese-children
#2
Ingrid Kvestad, Mari Hysing, Merina Shrestha, Manjeswori Ulak, Andrew L Thorne-Lyman, Sigrun Henjum, Per M Ueland, Øyvind Midttun, Wafaie Fawzi, Ram K Chandyo, Prakash S Shrestha, Tor A Strand
Background: Poor vitamin B-12 (cobalamin) status is widespread in South Asia. Insufficient vitamin B-12 status has been linked to poor neurodevelopment in young children.Objective: We measured the associations between vitamin B-12 status in infancy (2-12 mo) and the development and cognitive functioning in Nepalese children 5 y later.Design: Vitamin B-12 status was assessed in infancy with the use of plasma cobalamin, total homocysteine (tHcy), and methylmalonic acid (MMA). At 5 y of age, we measured development with the use of the Ages and Stages Questionnaire, 3rd edition (ASQ-3), and cognitive functioning by using the Developmental Neuropsychological Assessment, 2nd edition (NEPSY II), in 320 children...
March 22, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28321931/disruptions-in-valine-degradation-affect-seed-development-and-germination-in-arabidopsis
#3
Andrew B Gipson, Kyla J Morton, Rachel J Rhee, Szabolcs Simo, Jack A Clayton, Morgan E Perrett, Christiana G Binkley, Erika L Jensen, Dana L Oakes, Matthew F Rouhier, Kerry A Rouhier
We have functionally characterized the role of two putative mitochondrial enzymes in valine degradation using insertional mutants. Prior to this study, the relationship between branched-chain amino acid degradation (named for leucine, valine, and isoleucine) and seed development was limited to leucine catabolism. Using a reverse genetics approach we show that disruptions in the mitochondrial valine degradation pathway affect seed development and germination in Arabidopsis thaliana. A null mutant of 3-hydroxyisobutyryl-CoA hydrolase (CHY4, At4g31810) resulted in an embryo lethal phenotype, while a null mutant of methylmalonate semialdehyde dehydrogenase (MMSD, At2g14170) resulted in seeds with wrinkled coats, decreased storage reserves, elevated valine and leucine, and reduced germination rates...
March 20, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28315235/identification-and-quantitation-of-malonic-acid-biomarkers-of-in-born-error-metabolism-by-targeted-metabolomics
#4
Chandra Shekar R Ambati, Furong Yuan, Lutfi A Abu-Elheiga, Yiqing Zhang, Vivekananda Shetty
Malonic acid (MA), methylmalonic acid (MMA), and ethylmalonic acid (EMA) metabolites are implicated in various non-cancer disorders that are associated with inborn-error metabolism. In this study, we have slightly modified the published 3-nitrophenylhydrazine (3NPH) derivatization method and applied it to derivatize MA, MMA, and EMA to their hydrazone derivatives, which were amenable for liquid chromatography- mass spectrometry (LC-MS) quantitation. 3NPH was used to derivatize MA, MMA, and EMA, and multiple reaction monitoring (MRM) transitions of the corresponding derivatives were determined by product-ion experiments...
March 17, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28284539/corrigendum-to-next-generation-sequencing-of-patients-with-mut-methylmalonic-aciduria-validation-of-somatic-cell-studies-and-identification-of-16-novel-mutations-mol-genet-metab-aug-2016-118-4-264-71
#5
Jordan Chu, Mihaela Pupavac, David Watkins, Xia Tian, Yanming Feng, Stella Chen, Remington Fenter, Victor W Zhang, Jing Wang, Lee-Jun Wong, David S Rosenblatt
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28237602/effects-of-intramuscular-injections-of-folic-acid-vitamin-b12-or-both-on-lactational-performance-and-energy-status-of-multiparous-dairy-cows
#6
M Duplessis, H Lapierre, D Pellerin, J-P Laforest, C L Girard
The purpose of this experiment was to gain understanding on changes in energy partitioning when folic acid and vitamin B12 supplements, alone or combined, were given by weekly intramuscular injections from 3 wk before the expected calving date until 7 wk postpartum. Twenty-four multiparous cows were assigned to 6 blocks of 4 cows each according to previous 305-d lactation yield to either 0 or 320 mg of folic acid and 0 or 10 mg of vitamin B12 in a 2 × 2 factorial arrangement. Plasma concentration of folates was increased by folic acid supplement, and this increase was greater with the combined supplement...
February 22, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28236717/efficient-automated-synthesis-of-2-5-18-f-fluoropentyl-2-methylmalonic-acid-18-f-ml-10-on-a-commercial-available-18-f-fdg-synthesis-module
#7
Shaoyu Liu, Dahong Nie, Shende Jiang, Ganghua Tang
[(18)F]ML-10 (2-(5-[(18)F]fluoro-pentyl)-2-methylmalonic acid) is a small molecule positron emission tomography (PET) probe for apoptosis imaging. Automated synthesis of [(18)F]ML-10 was developed by using two different purification methods through a direct saponification procedure on a modified commercial [(18)F]Fluoro-2-Deoxyglucose ([(18)F]FDG) synthesizer. C18 purification method 1: The final [(18)F]ML-10 solution containing ethanol was obtained with radiochemical yields of 60±5% (n=5) at the end of bombardment (EOB) and radiochemical purity of 98% in 35min...
February 20, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28223158/aminoguanidine-alleviated-mma-induced-impairment-of-cognitive-ability-in-rats-by-downregulating-oxidative-stress-and-inflammatory-reaction
#8
Qiliang Li, Wenqi Song, Ze Tian, Peichang Wang
Methylmalonic acidemia (MMA) is the most common organic acidemia in childhood. Many "treated" patients continued to display various degrees of mental retardation and psychomotor delay, which could be caused by brain damage from elevated oxidative stress. Aminoguanidine (AG), a synthetic antioxidant, was tested in a MMA rat model for its potential therapeutic effects on memory impairment. The effects of AG on MMA-induced cognitive impairment in Wistar rats were evaluated with Morris Water Maze. The levels of nerve cell apoptosis and microglial activation were investigated to illustrate the mechanisms of the improvement of cognition with AG treatment in MMA rats...
February 13, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28218226/manic-depressive-psychosis-as-the-initial-symptom-in-adult-siblings-with-late-onset-combined-methylmalonic-aciduria-and-homocystinemia-cobalamin-c-type
#9
Li-Yong Wu, Hong An, Jia Liu, Jie-Ying Li, Yue Han, Ai-Hong Zhou, Fen Wang, Jian-Ping Jia
No abstract text is available yet for this article.
February 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28153297/detection-of-inborn-errors-of-metabolism-utilizing-gc-ms-urinary-metabolomics-coupled-with-a-modified-orthogonal-partial-least-squares-discriminant-analysis
#10
Qin Yang, Shan-Shan Lin, Jiang-Tao Yang, Li-Juan Tang, Ru-Qin Yu
GC-MS urinary metabolomic analysis coupled with chemometrics is used to detect inborn errors of metabolism (IEMs), which are genetic disorders causing severe mental and physical debility and even sudden infant death. Orthogonal partial least squares discriminant analysis (OPLS-DA) is an efficient multivariate statistical method that conducts data analysis of metabolite profiling. However, performance degradation is often observed for OPLS-DA due to increasing size and complexity of metabolomic datasets. In this study, hybrid particle swarm optimization (HPSO) is employed to modify OPLS-DA by simultaneously selecting the optimal variable subset, associated weights and the appropriate number of orthogonal components, constructing a new algorithm called HPSO-OPLSDA...
April 1, 2017: Talanta
https://www.readbyqxmd.com/read/28141776/acute-illness-protocol-for-organic-acidemias-methylmalonic-acidemia-and-propionic-acidemia
#11
Saud H Aldubayan, Lance H Rodan, Gerard T Berry, Harvey L Levy
Inborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physicians, pediatricians, internists, and critical care physicians as well as biochemical geneticists to be familiar with the initial assessment and management of patients with these disorders...
February 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28135329/hepatic-effects-of-pharmacological-doses-of-hydroxy-cobalamin-c-lactam-in-mice
#12
Patrizia Haegler, David Grünig, Benjamin Berger, Luigi Terracciano, Stephan Krähenbühl, Jamal Bouitbir
The vitamin B12 analog hydroxy-cobalamin[c-lactam] (HCCL) impairs hepatic mitochondrial protein synthesis and function of the electron transport chain in rats. We aimed to establish an in vivo model for mitochondrial dysfunction in mice, which could be used to investigate hepatotoxicity of mitochondrial toxicants. In a first step, we performed a dose-finding study in mice treated with HCCL 0.4 mg/kg and 4 mg/kg i.p. for two to four weeks. The plasma methylmalonate concentration was strongly increased at 4 mg/kg starting at three weeks of treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28101778/eight-novel-mut-loss-of-function-missense-mutations-in-chinese-patients-with-isolated-methylmalonic-academia
#13
Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu
BACKGROUND: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. METHODS: Eight Chinese patients were identified with novel mutations. Plasmids carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional analyses...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28070528/methylmalonic-acidemia-diagnosis-by-laboratory-methods
#14
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
#15
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...
March 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
#16
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/28052884/vitamin-b-12-fortified-toothpaste-improves-vitamin-status-in-vegans-a-12-wk-randomized-placebo-controlled-study
#17
Anne-Kathrin Siebert, Rima Obeid, Stine Weder, Hussain M Awwad, Andreas Sputtek, Juergen Geisel, Markus Keller
BACKGROUND: The oral application of vitamin B-12 may prevent its deficiency if the vitamin is absorbed via the mucosal barrier. OBJECTIVES: We studied the effect of the use of a vitamin B-12-fortified toothpaste on vitamin-status markers in vegans and assessed the efficiency of markers in the identification of vitamin-augmentation status. DESIGN: In this 12-wk, double-blinded, randomized, placebo-controlled study, 76 vegans received either a placebo (n = 34) or vitamin B-12 (n = 42) toothpaste...
January 4, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28043022/spliced-leader-based-analyses-reveal-the-effects-of-polycyclic-aromatic-hydrocarbons-on-gene-expression-in-the-copepod-pseudodiaptomus-poplesia
#18
Yunyun Zhuang, Feifei Yang, Donghui Xu, Hongju Chen, Huan Zhang, Guangxing Liu
Polycyclic aromatic hydrocarbons (PAHs) are a group of toxic and carcinogenic pollutants that can adversely affect the development, growth and reproduction of marine organisms including copepods. However, knowledge on the molecular mechanisms regulating the response to PAH exposure in marine planktonic copepods is limited. In this study, we investigated the survival and gene expression of the calanoid copepod Pseudodiaptomus poplesia upon exposure to two PAHs, 1, 2-dimethylnaphthalene (1, 2-NAPH) and pyrene...
February 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28029114/folate-and-vitamin-b12-related-biomarkers-in-relation-to-brain-volumes
#19
Nikita L van der Zwaluw, Elske M Brouwer-Brolsma, Ondine van de Rest, Janneke P van Wijngaarden, Paulette H In 't Veld, Daniella I Kourie, Karin M A Swart, Anke W Enneman, Suzanne C van Dijk, Nathalie van der Velde, Roy P C Kessels, Paul A M Smeets, Frans J Kok, Rosalie A M Dhonukshe-Rutten, Lisette C P G M de Groot
AIM: We investigated cross-sectional associations between circulating homocysteine, folate, biomarkers of vitamin B12 status and brain volumes. We furthermore compared brain volumes of participants who received daily folic acid and vitamin B12 supplementation with participants who did not. METHODS: Participants of the B-PROOF study (n = 2919) were assigned to 400 µg folic acid and 500 µg vitamin B12, or a placebo. After two years of intervention, T₁-weighted magnetic resonance imaging (MRI) scans were made in a random subsample (n = 218) to obtain grey and white matter volume, and total brain volume (TBV)...
December 24, 2016: Nutrients
https://www.readbyqxmd.com/read/27981743/whey-protein-isolate-improves-vitamin-b12-and-folate-status-in-elderly-australians-with-subclinical-deficiency-of-vitamin-b12
#20
Varinderpal S Dhillon, Dimitrios Zabaras, Theodora Almond, Paul Cavuoto, Genevieve James-Martin, Michael Fenech
SCOPE: Whey protein isolate (WPI) contains vitamin B12 and folate. However, the efficacy of WPI as a bioavailable source of these vitamins in the elderly with low vitamin B12 was not previously tested. We investigated the effects of WPI supplementation on vitamin B12 and folate status in blood and measured changes in homocysteine (HCY), methylmalonic acid (MMA), and genome integrity biomarkers in elderly individuals with low vitamin B12 status. The effect of WPI was compared to soy protein isolate (SPI)...
December 16, 2016: Molecular Nutrition & Food Research
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