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Methylmalonic Acid

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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
#1
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...
August 16, 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
#2
Justice Norvienyeku, Zhenhui Zhong, Lili Lin, Xie Dang, Meilian Chen, Xiaolian Lin, Honghong Zhang, Wilfred Mabeche 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
#3
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
https://www.readbyqxmd.com/read/28780990/folate-and-vitamin-b12-status-is-associated-with-insulin-resistance-and-metabolic-syndrome-in-morbid-obesity
#4
Zhen Li, Rosa-Maria Gueant-Rodriguez, Didier Quilliot, Marie-Aude Sirveaux, David Meyre, Jean-Louis Gueant, Laurent Brunaud
BACKGROUND: Low vitamin B12 and high folate during pregnancy are associated with visceral obesity and insulin resistance in offspring. In the general population, high folate exacerbates the increase of methylmalonic acid, a marker of vitamin B12 deficiency. However, the influence of vitamin B12 and folate and their related markers on insulin resistance and metabolic syndrome remains unknown in severe obesity. AIM: To evaluate the influence of vitamin B12 and folate on HOMA-IR and components of metabolic syndrome in severe obesity...
July 24, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28780092/whole-body-propionate-and-glucose-metabolism-of-multiparous-dairy-cows-receiving-folic-acid-and-vitamin-b12-supplements
#5
M Duplessis, H Lapierre, B Ouattara, N Bissonnette, D Pellerin, J-P Laforest, C L Girard
This study was undertaken to evaluate the effect of supplementation of folic acid and vitamin B12 on glucose and propionate metabolism. Twenty-four multiparous cows were assigned according to a complete block design in a 2 × 2 factorial arrangement to one of the following treatments: (1) saline 0.9% NaCl, (2) 320 mg of folic acid, (3) 10 mg of vitamin B12, or (4) 320 mg of folic acid and 10 mg of vitamin B12. Intramuscular injections were given weekly from 3 wk before the expected calving date until 9 wk postpartum...
August 2, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28760847/the-tetr-family-transcriptional-regulator-pccd-negatively-controls-propionyl-coenzyme-a-assimilation-in-saccharopolyspora-erythraea
#6
Zhen Xu, Miaomiao Wang, Bang-Ce Ye
Propanol stimulates erythromycin biosynthesis by increasing the supply of propionyl-CoA, a starter unit of erythromycin production in Saccharopolyspora erythraea Propionyl-CoA is assimilated via propionyl-CoA carboxylase to methylmalonyl-CoA, an extender unit of erythromycin. We found that the addition of n-propanol or propionate caused a 4-16 fold increase in the transcriptional levels of the SACE_3398-3400 locus encoding propionyl-CoA carboxylase, a key enzyme in propionate metabolism. The regulator PccD was proved to be directly involved in the transcription regulation of SACE_3398-3400 locus by EMSAs and DNase I footprint analysis...
July 31, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28741715/first-report-of-carglumic-acid-in-a-patient-with-citrullinemia-type-1-argininosuccinate-synthetase-deficiency
#7
E Kose, P Kuyum, B Aksoy, J Häberle, N Arslan, Y Ozturk
WHAT IS KNOWN AND OBJECTIVE: Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. CASE DESCRIPTION: A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p...
July 25, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28726051/serum-methylmalonic-acid-correlates-with-neuropathic-pain-in-idiopathic-parkinson-s-disease
#8
Jin-Sung Park, Donghwi Park, Pan-Woo Ko, Kyunghun Kang, Ho-Won Lee
Recent studies have shown a relatively higher prevalence of peripheral neuropathy in idiopathic Parkinson's disease (IPD). The hypothesis is that prolonged levodopa exposure causes vitamin B12 deficiency, which leads to peripheral neuropathy. The aim of our study was to find the relationship between vitamin B12 and its precursor methylmalonic acid (MMA) in IPD patients with neuropathic pain. We performed a cross-sectional study by enrolling consecutive 43 patients who were clinically tested positive for F-18 FP-CIT PET and 15 patients were diagnosed with peripheral neuropathy according to the Toronto clinical scoring system (TCSS)...
July 19, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28711333/b12-deficiency-leading-to-marked-poikilocytosis-versus-true-schistocytosis-a-pernicious-problem
#9
James A Hall, James Mason, Julia Choi, Mark Holguin
Severe vitamin B12 deficiency is caused most commonly by autoimmune atrophic gastritis leading to loss of intrinsic factor. Vitamin B12 deficiency leading to megaloblastic anemia and demyelinating central nervous system disease is well known; however, a rare presentation of B12 deficiency described as pseudothrombotic microangiopathy is not well known. This complication presents with signs of mechanical hemolysis, elevated lactate dehydrogenase (LDH), thrombocytopenia, and a low reticulocyte count, which can be incorrectly diagnosed as thrombotic thrombocytopenic purpura and managed incorrectly...
June 20, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28678220/neuropsychiatric-and-neurological-problems-among-vitamin-b12-deficient-young-vegetarians
#10
Aneel Kapoor, Mukhtiar Baig, Saeed A Tunio, Abdul S Memon, Hotchand Karmani
OBJECTIVE: To assess the frequency of neuropsychiatric and neurological problems in apparently healthy young vegetarians and estimate serum Vitamin B12, methylmalonic acid (MMA), and folic acid levels. METHODS: This prospective study was conducted in the Department of Biochemistry, Basic Medical Sciences Institute (BMSI), Jinnah Postgraduate Medical Center (JPMC), Karachi, Pakistan, in the years of 2012 and 2013. The data of 100 vegetarians and 100 omnivores were analyzed and compared...
July 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28660890/vitamin-b12-deficiency
#11
REVIEW
Ralph Green, Lindsay H Allen, Anne-Lise Bjørke-Monsen, Alex Brito, Jean-Louis Guéant, Joshua W Miller, Anne M Molloy, Ebba Nexo, Sally Stabler, Ban-Hock Toh, Per Magne Ueland, Chittaranjan Yajnik
Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, subclinical deficiency affects between 2.5% and 26% of the general population depending on the definition used, although the clinical relevance is unclear. B12 deficiency can affect individuals at all ages, but most particularly elderly individuals...
June 29, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28620491/pseudo-thrombotic-thrombocytopenic-purpura-presenting-as-multi-organ-dysfunction-syndrome-a-rare-complication-of-pernicious-anemia
#12
Saroj Kandel, Nibash Budhathoki, Shanta Pandey, Bikash Bhattarai, Aam Baqui, Ramesh Pandey, Divya Salhan, Danilo Enriquez, Joseph Quist, Frances M Schmidt
OBJECTIVE: We present a rare case of pernicious anemia presented as multi-organ dysfunction syndrome, later found to have pseudo-thrombotic thrombocytopenic purpura. METHODS: An 86-year-old female presented with respiratory distress, altered mental status, acute renal failure and was intubated in emergency room. She was found to have severe anemia, thrombocytopenia, high lactate, high lactate dehydrogenase and low haptoglobin. Peripheral smear revealed multilobulated neutrophils with schistocytes, poikilocytes and anisocytes...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28618975/a-black-cohosh-extract-causes-hematologic-and-biochemical-changes-consistent-with-a-functional-cobalamin-deficiency-in-female-b6c3f1-n-mice
#13
Michelle C Cora, William Gwinn, Ralph Wilson, Debra King, Suramya Waidyanatha, Grace E Kissling, Sukhdev S Brar, Dorian Olivera, Chad Blystone, Greg Travlos
Black cohosh rhizome, available as a dietary supplement, is most commonly marketed as a remedy for dysmenorrhea and menopausal symptoms. A previous subchronic toxicity study of black cohosh dried ethanolic extract (BCE) in female mice revealed a dose-dependent ineffective erythropoiesis with a macrocytosis consistent with the condition known as megaloblastic anemia. The purpose of this study was to investigate potential mechanisms by which BCE induces these particular hematological changes. B6C3F1/N female mice (32/group) were exposed by gavage to vehicle or 1,000 mg/kg BCE for 92 days...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28566165/peripheral-neuropathy-in-idiopathic-parkinson-s-disease-a-systematic-review
#14
REVIEW
Panagiotis Zis, Richard A Grünewald, Ray Kallol Chaudhuri, Marios Hadjivassiliou
BACKGROUND: Parkinson's disease (PD) has been associated with peripheral neuropathy (PN). PN has been demonstrated in some rare genetic forms of PD (e.g. PARK2 mutations) but has also been linked to levodopa exposure. OBJECTIVE: The aim of this systematic review is to clarify any evidence of peripheral nervous system involvement in idiopathic PD. METHODS: A systematic computer-based literature search was conducted on PubMed database. FINDINGS: The pooled estimate of the prevalence of large fiber PN in PD was 16...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28550124/an-adolescent-with-increased-plasma-methylmalonic-acid-and-total-homocysteine
#15
Xiaowei Fu, Carla Francisco, Paul Pattengale, Maurice R O'Gorman, Wendy G Mitchell
No abstract text is available yet for this article.
June 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28539414/moderately-elevated-homocysteine-does-not-contribute-to-thoracic-aortic-aneurysm-in-mice
#16
Jasmin Roohi, Benjamin Kang, David Bernard, Djahida Bedja, Harry C Dietz, Lawrence C Brody
Background: Moderate hyperhomocysteinemia is an attractive target for intervention because it is present in 5-7% of the population and can be reversed by diet. This approach presupposes that hyperhomocysteinemia is directly involved in the disease process. Epidemiologic studies have indicated that moderately elevated homocysteine may contribute to thoracic aortic aneurysm (TAA) dilatation and dissection in humans. In vitro, elevated homocysteine disrupts the structure and function of extracellular matrix components, suggesting that moderate hyperhomocysteinemia may contribute to the development and/or progression of TAA...
July 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#17
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28537576/an-infant-and-mother-with-severe-b12-deficiency-vitamin-b12-status-assessment-should-be-determined-in-pregnant-women-with-anaemia
#18
A Sobczyńska-Malefora, R Ramachandran, D Cregeen, E Green, P Bennett, D J Harrington, H A Lemonde
The vitamin B12 status of infants depends on maternal B12 status during pregnancy, and during lactation if breastfed. We present a 9-month-old girl who was admitted to the metabolic unit for assessment of developmental delay. She was exclusively breastfed and the introduction of solids at 5 months was unsuccessful. Investigations revealed pancytopenia, undetectable B12 and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B12 injections. Marked catch-up of developmental milestones was noted after treatment with B12...
August 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28447237/effects-of-metformin-versus-placebo-on-vitamin-b12-metabolism-in-non-diabetic-breast-cancer-patients-in-cctg-ma-32
#19
Ana Elisa Lohmann, Mira F Liebman, William Brien, Wendy R Parulekar, Karen A Gelmon, Lois E Shepherd, Jennifer A Ligibel, Dawn L Hershman, Priya Rastogi, Ingrid A Mayer, Timothy J Hobday, Julie Lemieux, Alastair Mark Thompson, Kathleen I Pritchard, Timothy Joseph Whelan, Som D Mukherjee, Haji I Chalchal, Vanessa Bernstein, Vuk Stambolic, Bingshu E Chen, Pamela Jean Goodwin
BACKGROUND: Metformin is associated with low levels of vitamin B12 (VitB12) in patients with diabetes. The CCTG/MA.32 trial investigates the effects of metformin vs placebo on breast cancer (BC) outcomes in non-diabetic high-risk BC patients. We analyzed VitB12 at baseline and after 6 months of metformin (versus placebo) in the first 492 patients with paired blood samples. METHODS: VitB12 was analyzed centrally in baseline and 6-month fasting plasma. Levels <181 pmol/L were considered deficient, 181-221 pmol/L borderline, and ≥222 pmol/L sufficient...
April 26, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28441332/pregnant-sheep-in-a-farm-environment-did-not-develop-anaemia
#20
Gabrielle C Musk, Amanda James, Matthew W Kemp, Sara Ritchie, Andrew Ritchie, Michael Laurence
The aim of this study was to document the haematological profile of pregnant ewes throughout gestation. Sheep were divided into three groups (n = 8 per group): non-pregnant, singleton, or twin pregnancy. Blood samples were collected every 14 days from day 55 of gestation for haemoglobin concentration; packed cell volume; total protein; and albumin concentration. On days 55 and 125 of gestation blood was collected for trace element estimation: soluble copper and zinc; glutathione peroxidase (GSHPx); and methylmalonic acid (MMA)...
April 25, 2017: Animals: An Open Access Journal From MDPI
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