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https://www.readbyqxmd.com/read/27916904/impact-of-pre-pregnancy-bmi-on-b-vitamin-and-inflammatory-status-in-early-pregnancy-an-observational-cohort-study
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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)...
October 4, 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27736023/b12-deficiency-is-common-in-infants-and-is-accompanied-by-serious-neurological-symptoms
#11
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...
October 13, 2016: 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
#12
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
https://www.readbyqxmd.com/read/27715010/combined-measurement-of-6-fat-soluble-vitamins-and-26-water-soluble-functional-vitamin-markers-and-amino-acids-in-50-%C3%A2%C2%B5l-of-serum-or-plasma-by-high-throughput-mass-spectrometry
#13
Øivind Midttun, Adrian McCann, Ove Aarseth, Marit Krokeide, Gry Kvalheim, Klaus Meyer, Per Magne Ueland
Targeted metabolic profiling characterized by complementary platforms, multiplexing and low volume consumption are increasingly used for studies using biobank material. Using liquid-liquid extraction, we developed a sample workup suitable for quantification of 6 fat- and 26 water-soluble biomarkers. 50μL of serum/plasma was mixed with dithioerythritol, ethanol and isooctane/chloroform. The organic layer was used for analysis of the fat-soluble vitamins all-trans retinol (A), 25-hydroxyvitamin D2, 25-hydroxyvitamin D3, α-tocopherol (E), γ-tocopherol (E) and phylloquinone (K1) by LC-MS/MS...
October 7, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/27699154/methylmalonyl-coa-epimerase-deficiency-a-new-case-with-an-acute-metabolic-presentation-and-an-intronic-splicing-mutation-in-the-mcee-gene
#14
Paula J Waters, Fanny Thuriot, Joe T R Clarke, Serge Gravel, David Watkins, David S Rosenblatt, Sébastien Lévesque
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this rare condition have been incompletely defined. We now describe a patient who presented acutely at 5 years of age with vomiting, dehydration, confusion, severe metabolic acidosis and mild hyperammonemia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27670840/improvement-in-the-prognosis-and-development-of-patients-with-methylmalonic-acidemia-after-living-donor-liver-transplant
#15
Rieko Sakamoto, Kimitoshi Nakamura, Jun Kido, Shiro Matsumoto, Hiroshi Mitsubuchi, Yukihiro Inomata, Fumio Endo
Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased...
September 26, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27609735/a-case-of-asymptomatic-pancytopenia-with-clinical-features-of-hemolysis-as-a-presentation-of-pernicious-anemia
#16
Venkateswara K Kollipara, Patrick L Brine, David Gemmel, Sisham Ingnam
Pernicious anemia is an autoimmune disease with a variety of clinical presentations. We describe a case of pernicious anemia presenting with pancytopenia with hemolytic features. Further workup revealed very low vitamin B12 levels and elevated methylmalonic acid. It is important for a general internist to identify pernicious anemia as one of the cause of pancytopenia and hemolytic anemia to avoid extensive workup. Pernicious anemia can present strictly with hematological abnormalities without neurological problems or vice versa as in our case...
2016: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/27602322/functional-analysis-of-a-novel-splicing-mutation-in-the-mutase-gene-of-two-unrelated-pedigrees
#17
Somayeh Ahmadloo, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour
OBJECTIVE: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its functional analysis. MATERIALS AND METHODS: Two probands with definite diagnosis of MMA and a common novel variant in the MUT were included in a descriptive study. Bioinformatic prediction of the splicing variant was done with different prediction servers...
2016: Cell Journal
https://www.readbyqxmd.com/read/27599447/ammonium-accumulation-is-a-primary-effect-of-2-methylcitrate-exposure-in-an-in-vitro-model-for-brain-damage-in-methylmalonic-aciduria
#18
Hong-Phuc Cudré-Cung, Petra Zavadakova, Sónia do Vale-Pereira, Noémie Remacle, Hugues Henry, Julijana Ivanisevic, Denise Tavel, Olivier Braissant, Diana Ballhausen
Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria. Exposure to 2-MCA triggered morphological changes and apoptosis of brain cells. This was accompanied by increased ammonium and decreased glutamine levels. However, the sequence and causal relationship between these phenomena remained unclear. To understand the sequence and time course of pathogenic events, we exposed 3D rat brain cell aggregates to different concentrations of 2-MCA (0...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27598852/screening-for-inherited-metabolic-diseases-using-gas-chromatography-tandem-mass-spectrometry-gc-ms-ms-in-sichuan-china
#19
Hong Wang, Xia Wang, Yingying Li, Wei Dai, Dongmei Jiang, Xiaodong Zhang, Yali Cui
The aim of this study was to retrospectively diagnose and confirm inherited metabolic diseases (IMD), from a small population of IMD high-risk patients, with the aid of gas chromatography-tandem mass spectrometry (GC-MS/MS), technologies yet to be popularized in Sichuan, China. Using GC-MS/MS coupled with clinical diagnosis, we retrospectively analyzed samples of dried blood spots and urine specimen from 183 IMD high-risk infant patients, who visited the West China Second Hospital of Sichuan University between June 2013 and October 2015...
September 6, 2016: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/27591164/targeted-exome-sequencing-for-the-identification-of-complementation-groups-in-methylmalonic-aciduria-a-south-indian-experience
#20
Akella Radha Rama Devi, Shaik Mohammad Naushad
OBJECTIVES: In view of high incidence of methylmalonic aciduria (MMA) among South Indians, we have performed clinical, biochemical and molecular genetic evaluation of fifteen patients. DESIGN AND METHODS: Targeted exome sequencing was performed for a panel of MMA causing genes i.e. MUT, ABCD4, ACSF3, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC. RESULTS: Methylmalonyl-CoA mutase (MUT), MMAB and MMAA genetic variants were found to contribute towards 40%, 33...
August 30, 2016: Clinical Biochemistry
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