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Methylmalonic Acid

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https://www.readbyqxmd.com/read/29209773/effect-of-8-week-oral-supplementation-with-3-%C3%A2%C2%B5g-cyano-b12-or-hydroxo-b12-in-a-vitamin-b12-deficient-population
#1
Eva Greibe, Namita Mahalle, Vijayshri Bhide, Sergey Fedosov, Christian W Heegaard, Sadanand Naik, Ebba Nexo
PURPOSE: We compare the effect of 8-week oral supplementation with cyano-B12 (currently used in vitamin pills) and hydroxo-B12 (predominant form in the diet) in a population with nutritional vitamin B12 deficiency. METHODS: Fifty-one healthy Indian adults with baseline serum cobalamin < 200 pmol/L were supplied for 8 weeks with daily oral supplements of 3-µg cyano-B12 (n = 15), 3-µg hydroxo-B12 (n = 16), or a placebo (n = 20). Blood at baseline, and each following week, was examined for total cobalamin, holotranscobalamin, methylmalonic acid, and homocysteine...
December 5, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/29188889/vitamin-b12-intake-and-related-biomarkers-associations-in-a-dutch-elderly-population
#2
J P van Wijngaarden, R A M Dhonukshe-Rutten, E M Brouwer-Brolsma, A W Enneman, K M A Swart, S C van Dijk, P H In 't Veld, N M van Schoor, N van der Velde, R de Jonge, P Lips, A G Uitterlinden, L C P G M de Groot
BACKGROUND: Vitamin B12 status is measured by four plasma/ serum biomarkers: total vitamin B12 (total B12), holotranscobalamin (holoTC), methylmalonic acid (MMA) and homocysteine (tHcy). Associations of B12 intake with holoTC and tHcy and associations between all four biomarkers have not been extensively studied. A better insight in these associations may contribute to an improved differentiation between vitamin B12 deficiency and a normal vitamin B12 status. OBJECTIVE: This study investigates associations between vitamin B12 intake and biomarkers and associations between biomarkers...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/29174300/long-term-treatment-with-metformin-in-type-2-diabetes-and-methylmalonic-acid-post-hoc-analysis-of-a-randomized-controlled-4-3year-trial
#3
Mattijs Out, Adriaan Kooy, Philippe Lehert, Casper A Schalkwijk, Coen D A Stehouwer
AIMS: Metformin treatment is associated with a decrease of serum vitamin B12, but whether this reflects tissue B12 deficiency is controversial. We studied the effects of metformin on serum levels of methylmalonic acid (MMA), a biomarker for tissue B12 deficiency, and on onset or progression of neuropathy. METHODS: In the HOME trial, 390 insulin-treated patients with type 2 diabetes were treated with metformin or placebo for 52months. In a post hoc analysis, we analyzed the association between metformin, MMA and a validated Neuropathy Score (NPS)...
November 8, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29172662/-maternal-and-neonatal-vitamin-b12-deficiency-detected-by-expanded-newborn-screening
#4
Ferenc Papp, Gábor Rácz, István Lénárt, Jenő Kóbor, Csaba Bereczki, Eszter Karg, Ákos Baráth
INTRODUCTION: Infant vitamin B12 deficiency can manifest as a severe neurodegenerative disorder and is usually caused by maternal deficiency due to vegetarian diet or pernicious anaemia. Its early recognition and treatment can prevent potentially serious and irreversible neurologic damage. Biochemically, vitamin B12 deficiency leads to an accumulation of methylmalonic acid, homocysteine, and propionylcarnitine. Expanded newborn screening using tandem mass spectrometry may identify neonatal and maternal vitamin B12 deficiency by measurement of propionylcarnitine and other metabolites in the dried blood spot sample of newborns...
December 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29153845/identification-of-abc-transporters-acting-in-vitamin-b12-metabolism-in-caenorhabditis-elegans
#5
Megan K McDonald, Julie-Anne Fritz, Dongxin Jia, Deborah Scheuchner, Floyd F Snyder, Avalyn Stanislaus, Jared Curle, Liang Li, Sally P Stabler, Robert H Allen, Paul E Mains, Roy A Gravel
Vitamin B12 (cobalamin, Cbl) is a micronutrient essential to human health. Cbl is not utilized as is but must go through complex subcellular and metabolic processing to generate two cofactor forms: methyl-Cbl for methionine synthase, a cytosolic enzyme; and adenosyl-Cbl for methylmalonyl-CoA mutase, a mitochondrial enzyme. Some 10-12 human genes have been identified responsible for the intracellular conversion of Cbl to cofactor forms, including genes that code for ATP-binding cassette (ABC) transporters acting at the lysosomal and plasma membranes...
November 11, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29129351/is-serum-methylmalonic-acid-a-reliable-biomarker-of-vitamin-b12-status-in-children-with-short-bowel-syndrome-a-case-series
#6
Lissette Jimenez, Danielle A Stamm, Brittany Depaula, Christopher P Duggan
We describe 3 patients with short bowel syndrome who had persistently elevated serum methylmalonic acid (MMA) levels while being treated for vitamin B12 deficiency. Following treatment for presumed small bowel bacterial overgrowth, MMA levels normalized. Among patients with short bowel syndrome, MMA levels may have limited specificity for vitamin B12 deficiency.
November 9, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29104221/methylmalonyl-coa-epimerase-deficiency-mimicking-propionic-aciduria
#7
Lenaig Abily-Donval, Stéphanie Torre, Aurélie Samson, Bénédicte Sudrié-Arnaud, Cécile Acquaviva, Anne-Marie Guerrot, Jean-François Benoist, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with sepiapterin reductase deficiency. The reported clinical pictures of isolated MCE are variable, with two asymptomatic patients and two other patients presenting with metabolic acidosis attacks. For combined MCE and sepiapterin reductase deficiency, the clinical picture is dominated by neurologic alterations...
November 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29083449/high-serum-folate-is-associated-with-brain-atrophy-in-older-diabetic-people-with-vitamin-b12-deficiency
#8
Y Deng, D Wang, K Wang, T Kwok
Previous studies have reported the adverse cognitive effects of high folate status in older individuals with vitamin B12 (VB12) deficiency. Thus, the aim of this study was to investigate how high serum folate and VB12 deficiency could collaboratively aggravate neuronal degeneration. In total, 146 older non-demented diabetic individuals with an average age of 75 ± 3.9 were recruited. VB12 deficiency and high folate status were based on high serum methylmalonic acid (MMA) concentrations (> 0.3 μmol/L) and the serum folate concentration being in the top tertile (> 31...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#9
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29045954/-pulmonary-arterial-hypertension-as-leading-manifestation-of-methylmalonic-aciduria-clinical-characteristics-and-gene-testing-in-15-cases
#10
X Q Liu, H Yan, J X Qiu, C Y Zhang, J G Qi, X Zhang, H J Xiao, Y L Yang, Y H Chen, J B DU
OBJECTIVE: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. METHODS: This study includes 15 cases of pediatric patients with MMA associated PH diagnosed and treated in Peking University First Hospital pediatric department between May 2012 and May 2016 with symptoms of PH as their leading presentation...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#11
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28953003/vitamin-b12-deficiency-in-inflammatory-bowel-disease-a-prospective-observational-pilot-study
#12
Robert Battat, Uri Kopylov, Joshua Byer, Maida J Sewitch, Elham Rahme, Hacene Nedjar, Elana Zelikovic, Serge Dionne, Talat Bessissow, Waqqas Afif, Paula J Waters, Ernest Seidman, Alain Bitton
BACKGROUND AND AIM: Diagnostic and management guidelines for vitamin B12 (cobalamin, Cbl) deficiency in inflammatory bowel disease (IBD) are lacking. True deficiency is defined as Cbl concentrations below reference range combined with elevated methylmalonic acid (MMA) concentrations. Studies analyzing Cbl status in IBD use only Cbl concentrations without confirmatory MMA. This study aims to determine the proportion of IBD patients with Cbl concentrations below reference range and their predisposing clinical and genetic characteristics...
September 25, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28925645/vitamin-b12-deficiency-recognition-and-management
#13
Robert C Langan, Andrew J Goodbred
Vitamin B12 deficiency is a common cause of megaloblastic anemia, various neuropsychiatric symptoms, and other clinical manifestations. Screening average-risk adults for vitamin B12 deficiency is not recommended. Screening may be warranted in patients with one or more risk factors, such as gastric or small intestine resections, inflammatory bowel disease, use of metformin for more than four months, use of proton pump inhibitors or histamine H2 blockers for more than 12 months, vegans or strict vegetarians, and adults older than 75 years...
September 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28920568/pregnant-women-of-south-asian-ethnicity-in-canada-have-substantially-lower-vitamin-b12-status-compared-with-pregnant-women-of-european-ethnicity
#14
Theresa H Schroder, Graham Sinclair, Andre Mattman, Benjamin Jung, Susan I Barr, Hilary D Vallance, Yvonne Lamers
Maternal vitamin B12 (B12) status has been inversely associated with adverse pregnancy outcomes and positively with fetal growth and infant development. South Asians, Canada's largest ethnic minority, are prone to B12 deficiency. Yet, data are lacking on B12 status in South Asian pregnant women in North America. We sought to determine B12 status, using multiple biomarkers, in 1st and 2nd trimester pregnant women of South Asian and, for comparison, European ethnicity living in Vancouver, Canada. In this retrospective cohort study, total B12, holotranscobalamin (holoTC), methylmalonic acid (MMA), and total homocysteine concentrations were quantified in two routinely collected (mean gestational week: 11·5 (range 8·3-13·9) and 16·5 (range 14·9-20·9)), banked serum samples of 748 healthy pregnant South Asian (n 371) and European (n 377) women...
September 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#15
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28895200/effects-of-6%C3%A2-weeks-of-parenteral-cobalamin-supplementation-on-clinical-and-biochemical-variables-in-cats-with-gastrointestinal-disease
#16
J Kempf, M Hersberger, R H Melliger, C E Reusch, P H Kook
BACKGROUND: Effects and duration of commonly used protocols for cobalamin (Cbl) supplementation on cellular Cbl deficiency have not been determined in hypocobalaminemic cats. HYPOTHESIS/OBJECTIVES: To evaluate effect of Cbl supplementation on clinical signs, serum and urine methylmalonic acid (MMA) concentrations over 16 weeks. ANIMALS: Twenty client-owned hypocobalaminemic cats with enteropathy. METHODS: Prospective study...
September 12, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28864375/metformin-use-and-vitamin-b12-deficiency-untangling-the-association
#17
René Rodríguez-Gutiérrez, Juan Montes-Villarreal, Karla Victoria Rodríguez-Velver, Camilo González-Velázquez, Alejandro Salcido-Montenegro, Anasofia Elizondo-Plazas, José Gerardo González-González
BACKGROUND: Current evidence linking vitamin B12 deficiency with metformin use is inconsistent. Hence, there is uncertainty regarding the diagnostic approach in this scenario. Furthermore, this possible association has not been studied in the complete spectrum of patients with diabetes. MATERIALS AND METHODS: We conducted a cross-sectional, controlled study with the objective of assessing differences in serum vitamin B12 levels among patients with and without diabetes with different metformin-treatment regimens...
August 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28814397/association-of-tcn2-rs1801198-c-776g-c-polymorphism-with-markers-of-one-carbon-metabolism-and-related-diseases-a-systematic-review-and-meta-analysis-of-genetic-association-studies
#18
REVIEW
Abderrahim Oussalah, Julien Levy, Pierre Filhine-Trésarrieu, Fares Namour, Jean-Louis Guéant
Background: Vitamin B-12 (cobalamin) deficiency may produce severe neurologic and hematologic manifestations. Approximately 20-25% of circulating cobalamin binds to transcobalamin 2 (TCN2), which is referred to as active vitamin B-12. The G allele of the TCN2 c.776G>C (rs1801198) polymorphism has been associated with a lower plasma concentration of holotranscobalamin. However, genotype association studies on rs1801198 have led to conflicting results regarding its influence on one-carbon metabolism (OCM) markers or its association with pathologic conditions...
October 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28799697/methylmalonate-semialdehyde-dehydrogenase-mediated-metabolite-homeostasis-essentially-regulate-conidiation-polarized-germination-and-pathogenesis-in-magnaporthe-oryzae
#19
Justice Norvienyeku, Zhenhui Zhong, Lili Lin, Xie Dang, Meilian Chen, Xiaolian Lin, Honghong Zhang, Wilfred M Anjago, Lianyu Lin, Waheed Abdul, Zonghua Wang
Plants generate multitude of aldehydes under abiotic and biotic stress conditions. Ample demonstrations have shown that rice-derived aldehydes enhance the resistance of rice against the rice-blast fungus Magnaporthe oryzae. However, how the fungal pathogen nullifies the inhibitory effects of host aldehydes to establish compatible interaction remains unknown. Here we identified and evaluated the in vivo transcriptional activities of M. oryzae aldehyde dehydrogenase (ALDH) genes. Transcriptional analysis of M...
August 11, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28794205/the-human-serum-metabolome-of-vitamin-b-12-deficiency-and-repletion-and-associations-with-neurological-function-in-elderly-adults
#20
Alex Brito, Dmitry Grapov, Johannes Fahrmann, Danielle Harvey, Ralph Green, Joshua W Miller, Sergey N Fedosov, Setareh Shahab-Ferdows, Daniela Hampel, Theresa L Pedersen, Oliver Fiehn, John W Newman, Ricardo Uauy, Lindsay H Allen
Background: The specific metabolomic perturbations that occur in vitamin B-12 deficiency, and their associations with neurological function, are not well characterized.Objective: We sought to characterize the human serum metabolome in subclinical vitamin B-12 deficiency and repletion.Methods: A before-and-after treatment study provided 1 injection of 10 mg vitamin B-12 (with 100 mg pyridoxine and 100 mg thiamin) to 27 community-dwelling elderly Chileans (∼74 y old) with vitamin B-12 deficiency, as evaluated with serum vitamin B-12, total plasma homocysteine (tHcy), methylmalonic acid (MMA), and holotranscobalamin...
August 9, 2017: Journal of Nutrition
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