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Methylmalonic Acid

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https://www.readbyqxmd.com/read/27858373/vitamin-b12-administration-by-subcutaneous-catheter-device-in-a-cobalamin-a-cbla-patient
#1
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
#2
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
#3
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/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#4
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
#5
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/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
#6
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
#7
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/27609735/a-case-of-asymptomatic-pancytopenia-with-clinical-features-of-hemolysis-as-a-presentation-of-pernicious-anemia
#8
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
#9
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/27544719/pilot-study-of-newborn-screening-of-inborn-error-of-metabolism-using-tandem-mass-spectrometry-in-malaysia-outcome-and-challenges
#10
Zabedah Md Yunus, Salina Abdul Rahman, Yew Sing Choy, Wee Teik Keng, Lock Hock Ngu
BACKGROUND: The aim of this study was to determine the feasibility of performing newborn screening (NBS) of inborn errors of metabolism (IEMs) using tandem mass spectrometry (TMS) and the impact on its detection rate in Malaysia. METHODS: During the study period between June 2006 and December 2008, 30,247 newborns from 11 major public hospitals in Malaysia were screened for 27 inborn errors of amino acid, organic acid and fatty acid metabolism by TMS. Dried blood spot (DBS) samples were collected between 24 h and 7 days with parental consent...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27536704/development-and-validation-of-a-gc-fid-method-for-diagnosis-of-methylmalonic-acidemia
#11
Fatemeh Keyfi, Abdolreza Varasteh
BACKGROUND: Urinary organic acids are water-soluble intermediates and end products of the metabolism of amino acids, carbohydrates, lipids, and a number of other metabolic processes. In the hereditary diseases known as organic acidurias, an enzyme or co-factor defect in a metabolic pathway leads to the accumulation and increased excretion of one or more of these acidic metabolites. Gas chromatography is the most commonly-used technology to separate and identify these metabolites. In this report the analytical conditions for the determination of methylmalonic acid using a gas chromatography/flame ionization detector (GC-FID) are studied with the aim to establish a method to analyze organic acids in human urine...
April 2016: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27519416/novel-mouse-models-of-methylmalonic-aciduria-recapitulate-phenotypic-traits-with-a-genetic-dosage-effect
#12
Patrick Forny, Anke Schumann, Merima Mustedanagic, Déborah Mathis, Marie-Angela Wulf, Nadine Nägele, Claus-Dieter Langhans, Assem Zhakupova, Joerg Heeren, Ludger Scheja, Ralph Fingerhut, Heidi L Peters, Thorsten Hornemann, Beat Thony, Stefan Kölker, Patricie Burda, D Sean Froese, Olivier Devuyst, Matthias R Baumgartner
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMAuria using a constitutive Mut knock-in (KI) allele based on the p.Met700Lys patient mutation, used homozygously (KI/KI) or combined with a knockout allele (KO/KI), to study biochemical and clinical MMAuria disease aspects...
September 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27492701/isolated-methylmalonic-acidemia-a-case-report
#13
Tarik Es Sadki, Stéphanie Badiou, Mathilde Boubal, Julien Baleine, Victor Sieso, Catherine Vallat, Jean-Paul Cristol, Christine Vianey-Saban, Gilles Cambonie
Isolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation. These symptoms do not respond to the administration of vitamin B12. We report a case of a ten-months-old infant to whom the diagnosis was suspected in the presence of a metabolic acidosis, hyperammonemia, without hepatic impairment and ketosis...
August 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27489777/clinical-experience-with-n-carbamylglutamate-in-a-single-centre-cohort-of-patients-with-propionic-and-methylmalonic-aciduria
#14
Alberto Burlina, Chiara Cazzorla, Elisa Zanonato, Emanuela Viggiano, Ilaria Fasan, Giulia Polo
BACKGROUND: The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown. This paper presents clinical experience from a single-centre cohort of patients with PA and MMA who received continuous long-term treatment with NCG. METHODS: The effect of oral NCG treatment (initial dose: 50 mg/kg/day) was investigated in patients with PA or MMA who were experiencing frequent progressive episodes of metabolic decompensation, who had pathological levels of ammonia, and who were referred to the Division of Metabolic Diseases, University Hospital of Padova between August 2014 and December 2015...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27482386/deep-vein-thrombosis-an-unreported-first-manifestation-of-polyglandular-autoimmune-syndrome-type-iii
#15
M Horsey, P Hogan, T Oliver
UNLABELLED: A 71-year-old woman with severe right lower leg pain, edema and erythema was presented to the Emergency Department and was found to have an extensive deep vein thrombosis (DVT) confirmed by ultrasound. She underwent an extensive evaluation due to her prior history of malignancy and new hypercoagulable state, but no evidence of recurrent disease was detected. Further investigation revealed pernicious anemia (PA), confirmed by the presence of a macrocytic anemia (MCV=115.8fL/red cell, Hgb=9...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27446930/biomarkers-and-algorithms-for-the-diagnosis-of-vitamin-b12-deficiency
#16
REVIEW
Luciana Hannibal, Vegard Lysne, Anne-Lise Bjørke-Monsen, Sidney Behringer, Sarah C Grünert, Ute Spiekerkoetter, Donald W Jacobsen, Henk J Blom
Vitamin B12 (cobalamin, Cbl, B12) is an indispensable water-soluble micronutrient that serves as a coenzyme for cytosolic methionine synthase (MS) and mitochondrial methylmalonyl-CoA mutase (MCM). Deficiency of Cbl, whether nutritional or due to inborn errors of Cbl metabolism, inactivate MS and MCM leading to the accumulation of homocysteine (Hcy) and methylmalonic acid (MMA), respectively. In conjunction with total B12 and its bioactive protein-bound form, holo-transcobalamin (holo-TC), Hcy, and MMA are the preferred serum biomarkers utilized to determine B12 status...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/27403441/mass-spectrometry-based-metabolomic-and-proteomic-strategies-in-organic-acidemias
#17
REVIEW
Esther Imperlini, Lucia Santorelli, Stefania Orrù, Emanuela Scolamiero, Margherita Ruoppolo, Marianna Caterino
Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly diagnosed and treated, whereas, in others cases, such as propionate metabolism-related OAs (propionic acidemia, PA; methylmalonic acidemia, MMA), neither diet, vitamin therapy, nor liver transplantation appears to prevent multiorgan impairment...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27383490/report-report-on-the-heterozygosis-mutations-of-c-567dupt-p-ile190tyrfs-13-of-mmachc-gene-in-1-child-patient-with-methylmalonic-academia
#18
Kai Liu, Guohong Chen, Yanli Ma, Yixin Xian, Zhang Zhang
This article reported 1 child patient with early-onset methylmalonic acidemia and proceeded gene detection for the child and his parents. The detecting results showed that there were respectively heterozygosis mutations of c.609G>A,p.(Trp203*) and c.567dupT,p.(Ile190Tyrfs*13) in the MMA CHC gene of child's parents, and all of the diseases were entailed to the child and caused the paroxysm of child. Consequently, the c.567dupT,p.(Ile190Tyrfs*13) was considered as a kind of new gene mutation. After being treated with vitamin B12 and levocamitine, the clinical symptoms and organic acid content of hematuresis of this child patient had taken a turn for the better...
May 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/27383050/metabolic-network-rewiring-of-propionate-flux-compensates-vitamin-b12-deficiency-in-c-elegans
#19
Emma Watson, Viridiana Olin-Sandoval, Michael J Hoy, Chi-Hua Li, Timo Louisse, Victoria Yao, Akihiro Mori, Amy D Holdorf, Olga G Troyanskaya, Markus Ralser, Albertha Jm Walhout
Metabolic network rewiring is the rerouting of metabolism through the use of alternate enzymes to adjust pathway flux and accomplish specific anabolic or catabolic objectives. Here, we report the first characterization of two parallel pathways for the breakdown of the short chain fatty acid propionate in Caenorhabditis elegans. Using genetic interaction mapping, gene co-expression analysis, pathway intermediate quantification and carbon tracing, we uncover a vitamin B12-independent propionate breakdown shunt that is transcriptionally activated on vitamin B12 deficient diets, or under genetic conditions mimicking the human diseases propionic- and methylmalonic acidemia, in which the canonical B12-dependent propionate breakdown pathway is blocked...
2016: ELife
https://www.readbyqxmd.com/read/27380367/structural-insights-into-the-catalytic-reaction-trigger-and-inhibition-of-d-3-hydroxybutyrate-dehydrogenase
#20
Hiroki Kanazawa, Md Mominul Hoque, Masaru Tsunoda, Kaoru Suzuki, Tamotsu Yamamoto, Gota Kawai, Jiro Kondo, Akio Takénaka
D-3-Hydroxybutyrate dehydrogenase catalyzes the reversible conversion of acetoacetate and D-3-hydroxybutyrate. These ketone bodies are both energy-storage forms of acetyl-CoA. In order to clarify the structural mechanisms of the catalytic reaction with the cognate substrate D-3-hydroxybutyrate and of the inhibition of the reaction by inhibitors, the enzyme from Alcaligenes faecalis has been analyzed by X-ray crystallography in liganded states with the substrate and with two types of inhibitor: malonate and methylmalonate...
July 2016: Acta Crystallographica. Section F, Structural Biology Communications
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