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Methylmalonic Acid

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https://www.readbyqxmd.com/read/29620684/neutropenia-and-increased-mean-corpuscular-volume-mcv-with-abnormal-neurological-findings-a-case-of-cobalamin-d-deficiency
#1
Pembe Soylu Ustkoyuncu, Mustafa Kendirci, Fatih Kardas, Songul Gokay, Huseyin Per, Ayse Kacar Bayram
BACKGROUND: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings. CLINICAL OBSERVATION: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29572946/prospective-long-term-evaluation-of-parenteral-hydroxocobalamin-supplementation-in-juvenile-beagles-with-selective-intestinal-cobalamin-malabsorption-imerslund-gr%C3%A3-sbeck-syndrome
#2
Peter Hendrik Kook, C E Reusch, M Hersberger
BACKGROUND: Prospective studies on maintenance treatment for Beagles with hereditary selective cobalamin (Cbl) malabsorption (Imerslund-Gräsbeck syndrome, IGS) are lacking. In our experience, measurement of methylmalonic acid (MMA), a Cbl-dependent metabolite, seems more helpful to monitor Cbl status as compared with serum Cbl concentrations. OBJECTIVES: To evaluate a standardized Cbl supplementation scheme in Beagles with IGS. We hypothesized that a single parenteral dose of 1 mg hydroxocobalamin (OH-Cbl) would maintain clinical and metabolic remission for up to 2 months...
March 23, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29558000/hemolytic-uremic-syndrome-with-dual-caution-in-an-infant-cobalamin-c-defect-and-complement-dysregulation-successfully-treated-with-eculizumab
#3
Ulkem Kocoglu Barlas, Hasan Serdar Kıhtır, Nilufer Goknar, Melike Ersoy, Nihal Akcay, Esra Sevketoglu
BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury...
March 20, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29543316/oral-vitamin-b-12-versus-intramuscular-vitamin-b-12-for-vitamin-b-12-deficiency
#4
REVIEW
Haiyan Wang, Linyi Li, Ling Ling Qin, Yanan Song, Josep Vidal-Alaball, Tong Hua Liu
BACKGROUND: Vitamin B12 deficiency is common, and the incidence increases with age. Most people with vitamin B12 deficiency are treated in primary care with intramuscular (IM) vitamin B12 . Doctors may not be prescribing oral vitamin B12 formulations because they may be unaware of this option or have concerns regarding its effectiveness. OBJECTIVES: To assess the effects of oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, and LILACS, as well as the WHO ICTRP and ClinicalTrials...
March 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29534543/validation-of-a-dietary-screening-tool-in-a-middle-aged-appalachian-population
#5
Melissa Ventura Marra, Sowmyanarayanan V Thuppal, Elizabeth J Johnson, Regan L Bailey
Proactive nutrition screening is an effective public health strategy for identifying and targeting individuals who could benefit from making dietary improvements for primary and secondary prevention of disease. The Dietary Screening Tool (DST) was developed and validated to assess nutritional risk among rural older adults. The purpose of this study was to evaluate the utility and validity of the DST to identify nutritional risk in middle-aged adults. This cross-sectional study in middle-aged adults (45-64 year olds, n = 87) who reside in Appalachia, examined nutritional status using an online health survey, biochemical measures, anthropometry, and three representative 24-h dietary recalls...
March 12, 2018: Nutrients
https://www.readbyqxmd.com/read/29529156/early-pregnancy-folate-cobalamin-interactions-and-their-effects-on-cobalamin-status-and-hematologic-variables-throughout-pregnancy
#6
Pol Solé-Navais, Judith Salat-Batlle, Pere Cavallé-Busquets, Joan Fernandez-Ballart, Per M Ueland, Mónica Ballesteros, Gemma Ornosa-Martín, Montserrat Inglès-Puig, Jose M Colomina, Michelle M Murphy
Background: Periconception folic acid supplementation is widespread, but how it interacts with cobalamin status is rarely considered. Objective: The aim of this study was to investigate whether first-trimester folate-cobalamin interactions affect pregnancy cobalamin status, hematologic variables, and pregnancy outcomes. Design: In the longitudinal Reus-Tarragona Birth Cohort study from <12 gestational weeks throughout pregnancy, fasting plasma and red blood cell (RBC) folate, plasma cobalamin, holotranscobalamin (holoTC), methylmalonic acid (MMA), total homocysteine (tHcy), hemoglobin, mean cell volume (MCV), postglucose-load serum glucose, gestational hypertension, gestational age at birth, and birth weight were recorded in 563 participants...
February 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29510241/a-male-case-with-cdkl5-associated-encephalopathy-manifesting-transient-methylmalonic-acidemia
#7
Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine...
March 3, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29508904/vitamin-b12-and-homocysteine-levels-predict-different-outcomes-in-early-parkinson-s-disease
#8
Chadwick W Christine, Peggy Auinger, Amelia Joslin, Yuora Yelpaala, Ralph Green
BACKGROUND: In moderately advanced Parkinson's disease (PD), low serum vitamin B12 levels are common and are associated with neuropathy and cognitive impairment. However, little is known about B12 in early PD. OBJECTIVE: To determine the prevalence of low vitamin B12 status in early PD and whether it is associated with clinical progression. METHODS: We measured vitamin B12 and other B12 status determinants (methylmalonic acid, homocysteine, and holotranscobalamin) in 680 baseline and 456 follow-up serum samples collected from DATATOP participants with early, untreated PD...
March 6, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29506877/early-changes-in-vitamin-b12-uptake-and-biomarker-status-following-roux-en-y-gastric-bypass-and-sleeve-gastrectomy
#9
L S Kornerup, C L Hvas, C B Abild, B Richelsen, E Nexo
BACKGROUND & AIMS: Bariatric surgery increases the risk of micronutrient deficiencies, including vitamin B12 (B12) deficiency. We analysed early changes in biomarkers of B12 status following bariatric surgery. METHODS: We prospectively included adult patients (n = 27) referred for either Roux-en-Y Gastric Bypass (RYGB) (n = 19) or Sleeve Gastrectomy (SG) (n = 8). Blood samples were drawn before surgery and 2 and 6 months following surgery for measurement of B12, holotranscobalamin (holoTC), and methylmalonic acid (MMA)...
February 15, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29499976/effect-of-two-different-sublingual-dosages-of-vitamin-b-12-on-cobalamin-nutritional-status-in-vegans-and-vegetarians-with-a-marginal-deficiency-a-randomized-controlled-trial
#10
Cristian Del Bo', Patrizia Riso, Claudio Gardana, Antonella Brusamolino, Alberto Battezzati, Salvatore Ciappellano
BACKGROUND & AIMS: Vegetarians and vegans are more vulnerable to vitamin B12 deficiency with severe risks of megaloblastic anemia, cognitive decline, neuropathy, and depression. An easy and simple method of supplementation consists of taking one weekly dosage of 2000 μg. However, single large oral doses of vitamin B12 are poorly absorbed. The present research evaluates the ability of two different sublingual dosages of vitamin B12 (350 μg/week vs 2000 μg/week) in improving cyanocobalamin (vitamin B12 ) nutritional status in vegans and vegetarians with a marginal deficiency...
February 15, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29433791/long-term-liver-disease-in-methylmalonic-and-propionic-acidemias
#11
Apolline Imbard, Nuria Garcia Segarra, Marine Tardieu, Pierre Broué, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Abdelhamid Slama, Charlotte Mussini, Guy Touati, Marie Danjoux, Pauline Gaignard, Hannes Vogel, François Labarthe, Manuel Schiff, Jean-François Benoist
BACKGROUND AND OBJECTIVES: Patients affected with methylmalonic acidemia (MMA) and propionic acidemia (PA) exhibit diverse long-term complications and poor outcome. Liver disease is not a reported complication. The aim of this study was to characterize and extensively evaluate long-term liver involvement in MMA and PA patients. PATIENTS AND METHODS: We first describe four patients who had severe liver involvement during the course of their disease. Histology showed fibrosis and/or cirrhosis in 3 patients...
February 7, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29374341/late-onset-cobalamin-c-deficiency-chinese-sibling-patients-with-neuropsychiatric-presentations
#12
Sheng-Jun Wang, Chuan-Zhu Yan, Yi-Ming Liu, Yu-Ying Zhao
The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. The clinical data of four pairs of Chinese patients were retrospectively analyzed. Serum homocysteine, urine organic acids measurements, neuroimaging exams and gene analysis were carried out in all patents...
January 26, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29336047/acrodermatitis-acidaemica
#13
C A Maguire, H Chong, R Ramachandran, J Popoola, V Akhras, M Singh
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases...
April 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29329201/population-reference-values-for-serum-methylmalonic-acid-concentrations-and-its-relationship-with-age-sex-race-ethnicity-supplement-use-kidney-function-and-serum-vitamin-b12-in-the-post-folic-acid-fortification-period
#14
Vijay Ganji, Mohammad R Kafai
Serum methylmalonic acid (MMA) is elevated in vitamin B-12 deficiency and in kidney dysfunction. Population reference values for serum MMA concentrations in post-folic acid fortification period are lacking. Aims of this study were to report the population reference values for serum MMA and to evaluate the relation between serum MMA and sex, age, race-ethnicity, kidney dysfunction and vitamin B-12. We used data from three National Health and Nutrition Examination Surveys, 1999-2000, 2001-2002 and 2003-2004 conducted after folic acid fortification commenced ( n = 18,569)...
January 12, 2018: Nutrients
https://www.readbyqxmd.com/read/29262333/systemic-messenger-rna-therapy-as-a-treatment-for-methylmalonic-acidemia
#15
Ding An, Jessica L Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E Murphy-Benenato, E Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M Lukacs, Randy J Chandler, Lin T Guey, Charles P Venditti, Paolo G V Martini
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although promising, AAV gene therapy can be limited by pre-existing immunity and has been associated with genotoxicity in mice. To develop a new class of therapy for MMA, we generated a pseudoU-modified codon-optimized mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most frequently mutated in MMA, and encapsulated it into biodegradable lipid nanoparticles (LNPs)...
December 19, 2017: Cell Reports
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
#16
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
#17
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
#18
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)...
February 2018: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29172662/-maternal-and-neonatal-vitamin-b-12-deficiency-detected-by-expanded-newborn-screening
#19
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-b-12-metabolism-in-caenorhabditis-elegans
#20
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...
December 2017: Molecular Genetics and Metabolism
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