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https://www.readbyqxmd.com/read/28070528/methylmalonic-acidemia-diagnosis-by-laboratory-methods
#1
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
#2
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...
January 5, 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
#3
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
#4
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
#5
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...
December 16, 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/28029114/folate-and-vitamin-b12-related-biomarkers-in-relation-to-brain-volumes
#6
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-sub-clinical-deficiency-of-vitamin-b12
#7
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 bio-available 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, methylmalonic acid 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
https://www.readbyqxmd.com/read/27941633/a-prospective-study-on-serum-methylmalonic-acid-and-homocysteine-in-pregnant-women
#8
Rihwa Choi, Sunkyu Choi, Yaeji Lim, Yoon Young Cho, Hye Jeong Kim, Sun Wook Kim, Jae Hoon Chung, Soo-Young Oh, Soo-Youn Lee
This study aimed to investigate serum methylmalonic acid (MMA) and homocysteine levels and to assess their effects on pregnancy and neonatal outcomes. Serum MMA and homocysteine levels in 278 pregnant Korean women, determined by liquid chromatography-tandem mass spectrometry in each trimester, were compared with those of previous studies in other ethnic groups. We investigated the association between MMA and homocysteine status with pregnancy and neonatal events: gestational diabetes, preeclampsia, gestational age at delivery, preterm birth, small for gestational age, neonatal birth weight, and congenital abnormalities...
December 8, 2016: Nutrients
https://www.readbyqxmd.com/read/27916904/impact-of-pre-pregnancy-bmi-on-b-vitamin-and-inflammatory-status-in-early-pregnancy-an-observational-cohort-study
#9
Anne-Lise Bjørke-Monsen, Arve Ulvik, Roy M Nilsen, Øivind Midttun, Christine Roth, Per Magnus, Camilla Stoltenberg, Stein Emil Vollset, Ted Reichborn-Kjennerud, Per Magne Ueland
Maternal nutrition and inflammation have been suggested as mediators in the development of various adverse pregnancy outcomes associated with maternal obesity. We have investigated the relation between pre-pregnancy BMI, B vitamin status, and inflammatory markers in a group of healthy pregnant women. Cobalamin, folate, pyridoxal 5'-phosphate, and riboflavin; and the metabolic markers homocysteine, methylmalonic acid, and 3-hydroxykynurenine/xanthurenic acid ratio (HK/XA); and markers of cellular inflammation, neopterin and kynurenine/tryptophan ratio (KTR) were determined in pregnancy week 18 and related to pre-pregnancy body mass index (BMI), in 2797 women from the Norwegian Mother and Child Cohort Study (MoBa)...
November 30, 2016: Nutrients
https://www.readbyqxmd.com/read/27858373/vitamin-b12-administration-by-subcutaneous-catheter-device-in-a-cobalamin-a-cbla-patient
#10
E Maines, G Morandi, G Gugelmo, F Ion-Popa, N Campostrini, A Pasini, M Vincenzi, F Teofoli, M Camilot, A Bordugo
Cobalamin A deficiency (cblA) is an inherited disorder of intracellular cobalamin metabolism, caused by impaired 5'-deoxy-adenosylcobalamin (AdoCbl) synthesis. Hydroxocobalamin (OHCbl) is the cornerstone of cblA treatment because vitamin B12 may completely restore AdoCbl deficiency. Parenteral administration, intravenous, subcutaneous or intramuscular, is generally required to achieve effect. Daily injections represent a problem for the parents and the caregivers, and this may lead to poor compliance and scarce adherence to the long-term treatment...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27833786/a-simple-and-sensitive-method-for-quantitative-measurement-of-methylmalonic-acid-by-turbulent-flow-chromatography-and-tandem-mass-spectrometry
#11
A G Tecleab, R C Schofield, L V Ramanathan, Dean C Carlow
A simple and sensitive method for the detection of methylmalonic acid in serum without derivatization has been developed. This method implements protein precipitation using methanol followed by additional sample clean up by turbulent flow liquid chromatography (TFLC). The sample was directly injected into the turbulent flow liquid chromatography tandem mass spectrometry system (TFLC-MS/MS) for online extraction followed by HPLC separation. The eluent was transferred to the mass spectrometer and ionized by heated electrospray negative ionization (HESI) and the analyte was quantified using a six-point calibration curve...
October 2016: Journal of Chromatography & Separation Techniques
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#12
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27804229/pulmonary-artery-hypertension-in-methylmalonic-acidemia
#13
Jun Kido, Hiroshi Mitsubuchi, Mina Sakanashi, Junichi Matsubara, Shirou Matsumoto, Rieko Sakamoto, Fumio Endo, Kimitoshi Nakamura
Methylmalonic acidemia (MMA) is an autosomal recessive disorder that can be classified into two types: (1) vitamin B12-responsive and (2) vitamin B12-non-responsive. In MMA cases with long-term survival, renal failure is often a problem, and timing for kidney transplantation for MMA is controversial. We encountered a vitamin B12-non-responsive MMA case for which regular hemodialysis for renal failure was initiated; the patient was 16 years old when she first received regular hemodialysis and 35 years old when she developed pulmonary artery hypertension (PAH)...
November 1, 2016: Hemodialysis International
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#14
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27754376/associations-of-milk-consumption-and-vitamin-b%C3%A2-and-%C3%AE-12-derived-from-milk-with-fitness-anthropometric-and-biochemical-indices-in-children-the-healthy-growth-study
#15
George Moschonis, Ellen G H M van den Heuvel, Christina Mavrogianni, Cécile M Singh-Povel, Michalis Leotsinidis, Yannis Manios
The benefits of dairy consumption seem to extend beyond its significant contribution to ensuring nutrient intake adequacy as indicated by the favourable associations with several health outcomes reported by different studies. The aims of the present study were to examine the associations of milk consumption with fitness, anthropometric and biochemical indices in children and further explore whether the observed associations are attributed to vitamins B₂ and B12 derived from milk. A representative subsample of 600 children aged 9-13 years participating in the Healthy Growth Study was examined...
October 13, 2016: Nutrients
https://www.readbyqxmd.com/read/27751230/-multisystem-damage-associated-with-methylmalonic-acidemia-in-9-children
#16
Yue Liu, Hua Wang, Ya-Li Wang
No abstract text is available yet for this article.
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27748010/renal-cell-carcinoma-harboring-somatic-tsc2-mutations-in-a-child-with-methylmalonic-acidemia
#17
Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parsons
Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence...
October 17, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#18
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
November 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27736023/b12-deficiency-is-common-in-infants-and-is-accompanied-by-serious-neurological-symptoms
#19
T Irevall, I Axelsson, E Naumburg
AIM: Adverse neurological symptoms have been linked to vitamin B12 deficiency in infants. This explorative study described the clinical presentation associated with vitamin B12 deficiency in this age group. METHODS: The study comprised infants who were born between 2004 and 2012 and were tested for vitamin B12 levels after they were admitted to a hospital with neurological symptoms at less than one year of age. Vitamin B12 deficiency was defined as low cobalamin in serum and/or increased homocysteine and/or increased methylmalonate...
January 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/27716295/association-of-kctd10-mvk-and-mmab-polymorphisms-with-dyslipidemia-and-coronary-heart-disease-in-han-chinese-population
#20
Jie Sun, Yun Qian, Yue Jiang, Jiaping Chen, Juncheng Dai, Guangfu Jin, Jianming Wang, Zhibin Hu, Sijun Liu, Chong Shen, Hongbing Shen
BACKGROUND: Several genome-wide association studies have discovered novel loci at chromosome 12q24, which includes mevalonate kinase (MVK), methylmalonic aciduria (cobalamin deficiency) cbIB type (MMAB), and potassium channel tetramerization domain-containing 10 (KCTD10), all of which influence HDL-cholesterol concentrations. However, there are few reports on the associations between these polymorphisms and HDL-C concentrations in Chinese population. This study aimed to evaluate the associations between functional polymorphisms in three genes (MVK, MMAB and KCTD10) and HDL-C concentrations, as well as coronary heart disease (CHD) susceptibility in Chinese individuals...
October 4, 2016: Lipids in Health and Disease
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