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https://www.readbyqxmd.com/read/29336047/acrodermatitis-acidaemica
#1
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/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#2
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
January 13, 2018: American Journal of Medical Genetics. Part A
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
#3
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/29318410/flux-analysis-of-inborn-errors-of-metabolism
#4
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
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/29237523/-clinical-analysis-of-15%C3%A2-851-children-at-risk-of-inherited-metabolic-diseases
#6
Shu-Xiang Lin, Jian-Bo Shu, Chao Wang, Rui Pan, Ying-Tao Meng, Chun-Hua Zhang, Bi-Li Zhang, Dan Wang, Yu-Qin Zhang
OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29217198/clinical-molecular-and-computational-analysis-in-two-cases-with-mitochondrial-encephalomyopathy-associated-with-suclg1-mutation-in-a-consanguineous-family
#7
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Boudour Khabou, Mouna Tabbebi, Rahma Felhi, Marwa Ammar, Emna Mkaouar-Rebai, Leila Keskes, Lamia Boughamoura, Faiza Fakhfakh
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c...
December 4, 2017: Biochemical and Biophysical Research Communications
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
#8
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/29197662/new-perspectives-for-pharmacological-chaperoning-treatment-in-methylmalonic-aciduria-cblb-type
#9
S Brasil, A Briso-Montiano, A Gámez, J Underhaug, M I Flydal, L Desviat, B Merinero, M Ugarte, A Martinez, B Pérez
No abstract text is available yet for this article.
November 29, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29188889/vitamin-b12-intake-and-related-biomarkers-associations-in-a-dutch-elderly-population
#10
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
#11
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
#12
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/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#13
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29153845/identification-of-abc-transporters-acting-in-vitamin-b12-metabolism-in-caenorhabditis-elegans
#14
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/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#15
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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
#16
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
#17
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
#18
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/29069827/the-effect-of-mvk-mmab-variants-their-haplotypes-and-g%C3%A3-e-interactions-on-serum-lipid-levels-and-the-risk-of-coronary-heart-disease-and-ischemic-stroke
#19
Liu Miao, Rui-Xing Yin, Feng Huang, Wu-Xian Chen, Xiao-Li Cao, Jin-Zhen Wu
AIM: This study aimed to detect the association of the mevalonate kinase (MVK) and methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB) gene variants, their haplotypes, and gene-environment (G×E) interactions on serum lipid levels and the risk of coronary heart disease (CHD) and ischemic stroke (IS) in a Chinese Han population. METHODS: Genotyping of the rs3759387, rs7134594, rs877710 and rs9593 SNPs in 846 CHD and 869 IS patients and 847 healthy controls was performed by PCR-RFLP and Sanger sequencing...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#20
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)
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