keyword
MENU ▼
Read by QxMD icon Read
search

Methylmalonic Acid

keyword
https://www.readbyqxmd.com/read/29433791/long-term-liver-disease-in-methylmalonic-and-propionic-acidemias
#1
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
#2
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
#3
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...
January 15, 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
#4
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
#5
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
#6
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
#7
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
#8
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-b12-deficiency-detected-by-expanded-newborn-screening
#9
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-b12-metabolism-in-caenorhabditis-elegans
#10
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
https://www.readbyqxmd.com/read/29129351/is-serum-methylmalonic-acid-a-reliable-biomarker-of-vitamin-b12-status-in-children-with-short-bowel-syndrome-a-case-series
#11
Lissette Jimenez, Danielle A Stamm, Brittany Depaula, Christopher P Duggan
We describe 3 patients with short bowel syndrome who had persistently elevated serum methylmalonic acid (MMA) levels while being treated for vitamin B12 deficiency. Following treatment for presumed small bowel bacterial overgrowth, MMA levels normalized. Among patients with short bowel syndrome, MMA levels may have limited specificity for vitamin B12 deficiency.
January 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29104221/methylmalonyl-coa-epimerase-deficiency-mimicking-propionic-aciduria
#12
Lenaig Abily-Donval, Stéphanie Torre, Aurélie Samson, Bénédicte Sudrié-Arnaud, Cécile Acquaviva, Anne-Marie Guerrot, Jean-François Benoist, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with sepiapterin reductase deficiency. The reported clinical pictures of isolated MCE are variable, with two asymptomatic patients and two other patients presenting with metabolic acidosis attacks. For combined MCE and sepiapterin reductase deficiency, the clinical picture is dominated by neurologic alterations...
November 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29083449/high-serum-folate-is-associated-with-brain-atrophy-in-older-diabetic-people-with-vitamin-b12-deficiency
#13
Y Deng, D Wang, K Wang, T Kwok
Previous studies have reported the adverse cognitive effects of high folate status in older individuals with vitamin B12 (VB12) deficiency. Thus, the aim of this study was to investigate how high serum folate and VB12 deficiency could collaboratively aggravate neuronal degeneration. In total, 146 older non-demented diabetic individuals with an average age of 75 ± 3.9 were recruited. VB12 deficiency and high folate status were based on high serum methylmalonic acid (MMA) concentrations (> 0.3 μmol/L) and the serum folate concentration being in the top tertile (> 31...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#14
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29045954/-pulmonary-arterial-hypertension-as-leading-manifestation-of-methylmalonic-aciduria-clinical-characteristics-and-gene-testing-in-15-cases
#15
X Q Liu, H Yan, J X Qiu, C Y Zhang, J G Qi, X Zhang, H J Xiao, Y L Yang, Y H Chen, J B DU
OBJECTIVE: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. METHODS: This study includes 15 cases of pediatric patients with MMA associated PH diagnosed and treated in Peking University First Hospital pediatric department between May 2012 and May 2016 with symptoms of PH as their leading presentation...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#16
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28953003/vitamin-b12-deficiency-in-inflammatory-bowel-disease-a-prospective-observational-pilot-study
#17
Robert Battat, Uri Kopylov, Joshua Byer, Maida J Sewitch, Elham Rahme, Hacene Nedjar, Elana Zelikovic, Serge Dionne, Talat Bessissow, Waqqas Afif, Paula J Waters, Ernest Seidman, Alain Bitton
BACKGROUND AND AIM: Diagnostic and management guidelines for vitamin B12 (cobalamin, Cbl) deficiency in inflammatory bowel disease (IBD) are lacking. True deficiency is defined as Cbl concentrations below reference range combined with elevated methylmalonic acid (MMA) concentrations. Studies analyzing Cbl status in IBD use only Cbl concentrations without confirmatory MMA. This study aims to determine the proportion of IBD patients with Cbl concentrations below reference range and their predisposing clinical and genetic characteristics...
September 25, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28925645/vitamin-b12-deficiency-recognition-and-management
#18
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
#19
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 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
#20
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
keyword
keyword
115012
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"