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https://www.readbyqxmd.com/read/28925645/vitamin-b12-deficiency-recognition-and-management
#1
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
#2
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 18, 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
#3
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
#4
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/28880978/quantitative-assessment-of-microstructural-changes-of-the-retina-in-infants-with-congenital-zika-syndrome
#5
Tomas S Aleman, Camila V Ventura, Milena M Cavalcanti, Leona W Serrano, Anastasia Traband, Akosua A Nti, Adriana L Gois, Vasco Bravo-Filho, Thayze T Martins, Charles W Nichols, Mauricio Maia, Rubens Belfort
Importance: A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). Objective: To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment...
September 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28864375/metformin-use-and-vitamin-b12-deficiency-untangling-the-association
#6
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
#7
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/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#8
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28799697/methylmalonate-semialdehyde-dehydrogenase-mediated-metabolite-homeostasis-essentially-regulate-conidiation-polarized-germination-and-pathogenesis-in-magnaporthe-oryzae
#9
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
#10
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
#11
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
#12
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
#13
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/28749033/co-occurring-down-syndrome-and-sucla2-related-mitochondrial-depletion-syndrome
#14
Natario L Couser, Daniel S Marchuk, Laurie D Smith, Alexandra Arreola, Kathleen A Kaiser-Rogers, Joseph Muenzer, Arti Pandya, Muge Gucsavas-Calikoglu, Cynthia M Powell
Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28741715/first-report-of-carglumic-acid-in-a-patient-with-citrullinemia-type-1-argininosuccinate-synthetase-deficiency
#15
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
#16
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
#17
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
#18
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
#19
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/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#20
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
September 2017: Journal of Pediatrics
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