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https://www.readbyqxmd.com/read/27912044/mutations-in-prosc-disrupt-cellular-pyridoxal-phosphate-homeostasis-and-cause-vitamin-b6-dependent-epilepsy
#1
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Matthew Wilson, Basma El Yacoubi, Emma Footitt, W K Chong, Louise C Wilson, Helen Prunty, Simon Pope, Simon Heales, Karine Lascelles, Mike Champion, Evangeline Wassmer, Pierangelo Veggiotti, Valérie de Crécy-Lagard, Philippa B Mills, Peter T Clayton
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or by inactivation of PLP, which can occur when compounds accumulate as a result of inborn errors of other pathways or when small molecules are ingested...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27890703/vitamin-b6-metabolism-in-microbes-and-approaches-for-fermentative-production
#2
REVIEW
Jonathan Rosenberg, Till Ischebeck, Fabian M Commichau
Vitamin B6 is a designation for the six vitamers pyridoxal, pyridoxine, pyridoxamine, pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate, and pyridoxamine. PLP, being the most important B6 vitamer, serves as a cofactor for many proteins and enzymes. In contrast to other organisms, animals and humans have to ingest vitamin B6 with their food. Several disorders are associated with vitamin B6 deficiency. Moreover, pharmaceuticals interfere with metabolism of the cofactor, which also results in vitamin B6 deficiency...
November 24, 2016: Biotechnology Advances
https://www.readbyqxmd.com/read/27882480/phenotype-biochemical-features-genotype-and-treatment-outcome-of-pyridoxine-dependent-epilepsy
#3
Amal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, Jaina Patel, Michal Inbar-Feigenberg, Shelly Weiss, Eduard Struys, Saadet Mercimek-Mahmutoglu
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). We developed a clinical severity score to compare phenotype with biochemical features, genotype and delays in the initiation of pyridoxine. Clinical severity score included 1) global developmental delay/ intellectual disability; 2) age of seizure onset prior to pyridoxine; 3) current seizures on treatment. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
November 23, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27881103/demonstration-of-early-efficacy-results-of-the-delayed-release-combination-of-doxylamine-pyridoxine-for-the-treatment-of-nausea-and-vomiting-of-pregnancy
#4
Gideon Koren, Shannon Clark, Gary D V Hankins, Steve N Caritis, Jason G Umans, Menachem Miodovnik, Donald R Mattison, Ilan Matok
BACKGROUND: Nausea and vomiting of pregnancy (NVP) affects up to 80% of expecting mothers. In April 2013 the FDA approved the delayed-release combination of doxylamine succinate and pyridoxine hydrochloride (Diclegis®) for NVP, based in part, on the results of a phase III randomized trial demonstrating the efficacy of this drug combination [study drug marketed under the trade name Diclectin® in Canada and Diclegis® in the United States] compared to placebo in pregnant women. Study drug dosing occurred for 14 days, which is substantially longer than what has been performed in similar studies...
November 24, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27876397/efficacy-of-sodium-channel-blockers-in-scn2a-early-infantile-epileptic-encephalopathy
#5
Robertino Dilena, Pasquale Striano, Elena Gennaro, Laura Bassi, Sara Olivotto, Laura Tadini, Fabio Mosca, Sergio Barbieri, Federico Zara, Monica Fumagalli
BACKGROUND: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION: A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27869428/-hemolytic-anemia-as-the-first-clinical-presentation-of-wilson-disease-a-pediatric-case
#6
José A Henao C, Kathia Valverde Muñoz, María L Ávila A
: Wilson disease is an autosomal recessive disorder of the copper's hepatic metabolism; it results in toxicity due to accumulation of the mineral. The hemolytic anemia is present in 17% at some point of the disease, although it is a rare initial clinical presentation. CASE REPORT: 11 years old boy who presented with negative Coombs hemolytic anemia and elevation of liver enzymes. The possibility of Wilson disease was considered, which was confirmed with the finding of a Kayser-Fleischer ring in the eye exam...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27865356/temporal-trends-in-dietary-supplement-prescriptions-of-united-states-military-service-members-suggest-a-decrease-in-pyridoxine-and-increase-in-vitamin-d-supplements-from-2005-to-2013
#7
Joseph J Knapik, Rosenie T Jean, Krista G Austin, Ryan A Steelman, Julia Gannon, Emily K Farina, Harris R Lieberman
Dietary supplements (DSs) can be obtained over-the-counter but can also be prescribed by health-care providers for therapeutic reasons. Few studies have documented this later source despite the fact that 79% of physicians and 82% of nurses have recommended DSs to patients. This investigation assessed prevalence and temporal trends in oral DS prescriptions filled by all United States service members (SMs) from 2005 to 2013 (n = 1 427 080 ± 22 139, mean ± standard deviation (SD)/y). We hypothesize that there would be temporal variations in specific types of DSs...
October 2016: Nutrition Research
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#8
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#9
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27810990/thiamin-pyridoxine-vitamin-d-and-carotene-deficiency-in-a-malnourished-patient-following-billroth-ii-gastrectomy
#10
Mark D Lahey, Amir Y Kamel
We describe the case of a malnourished 48-year-old man who had previously undergone a Billroth II procedure for severe peptic ulcer disease. He was found to have a severely stenotic gastrojejunal anastomosis with inflamed mucosa that prevented him from tolerating solid food. Laboratory assessment revealed deficiencies in thiamin, pyridoxine, vitamin D, and carotene. This case demonstrates potential vital micronutrient complications following a partial gastrectomy.
November 3, 2016: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/27807020/miliary-tuberculosis-in-an-immunocompetent-male-with-a-fatal-outcome
#11
Louise Dunphy, Elizabeth Keating, T Parke
A man aged 33 years, born in Nepal, but resident in the UK for 7 years presented to the emergency department with a 4-day history of general malaise, fever (temperature 38.6°C) and a non-productive cough. His medical history was unremarkable and no high-risk behaviour was identified. Clinical examination confirmed decreased air entry bilaterally with bibasal crackles. He was tachycardic, with a heart rate of 120 bpm. Further investigation with a 12-lead ECG confirmed supraventricular tachycardia (SVT) which was terminated with vagal manoeuvres...
November 2, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27806798/-pyridoxine-dependent-epilepsy-with-atypical-clinical-presentation
#12
J Xue, Z X Yang, S Wang
No abstract text is available yet for this article.
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27778219/guidelines-for-the-diagnosis-and-management-of-cystathionine-beta-synthase-deficiency
#13
Andrew A M Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I M Ben-Omran, Anupam B Chakrapani, Ellen Crushell, Mick J Henderson, Michel Hochuli, Martina Huemer, Miriam C H Janssen, Francois Maillot, Philip D Mayne, Jenny McNulty, Tara M Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J Blom, Kimberly A Chapman
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine...
October 24, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27757515/high-throughput-and-simultaneous-quantitative-analysis-of-homocysteine-methionine-cycle-metabolites-and-co-factors-in-blood-plasma-and-cerebrospinal-fluid-by-isotope-dilution-lc-ms-ms
#14
Seu Ping Guiraud, Ivan Montoliu, Laeticia Da Silva, Loïc Dayon, Antonio Núñez Galindo, John Corthésy, Martin Kussmann, Francois-Pierre Martin
The methionine cycle is a key pathway contributing to the regulation of human health, with well-established involvement in cardiovascular diseases and cognitive function. Changes in one-carbon cycle metabolites have also been associated with mild cognitive decline, vascular dementia, and Alzheimer's disease. Today, there is no single analytical method to monitor both metabolites and co-factors of the methionine cycle. To address this limitation, we here report for the first time a new method for the simultaneous quantitation of 17 metabolites in the methionine cycle, which are homocysteic acid, taurine, serine, cysteine, glycine, homocysteine, riboflavin, methionine, pyridoxine, cystathionine, pyridoxamine, S-adenosylhomocysteine, S-adenosylmethionine, betaine, choline, dimethylglycine, and 5-methyltetrahydrofolic acid...
October 18, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27733681/vitamin-b6-prevents-il-1%C3%AE-production-by-inhibiting-nlrp3-inflammasome-activation
#15
Peipei Zhang, Kohsuke Tsuchiya, Takeshi Kinoshita, Hiroko Kushiyama, Sofya Suidasari, Mizuki Hatakeyama, Hisanori Imura, Norihisa Kato, Takashi Suda
Vitamin B6 includes six water-soluble vitamers: pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN), and their phosphorylated forms. Pyridoxal 5'-phosphate (PLP) is an important cofactor for many metabolic enzymes. Several lines of evidence demonstrate that blood levels of PLP are significantly lower in patients with inflammation than in control subjects, and that vitamin B6 has anti-inflammatory effects, with therapeutic potential for a variety of inflammatory diseases. Although one of our group (NK) previously demonstrated that PL inhibits the NF-κB pathway, the molecular mechanism by which vitamin B6 suppresses inflammation is not well understood...
October 12, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27731292/treatments-for-hyperemesis-gravidarum-and-nausea-and-vomiting-in-pregnancy-a-systematic-review-and-economic-assessment
#16
Amy O'Donnell, Catherine McParlin, Stephen C Robson, Fiona Beyer, Eoin Moloney, Andrew Bryant, Jennifer Bradley, Colin Muirhead, Catherine Nelson-Piercy, Dorothy Newbury-Birch, Justine Norman, Emma Simpson, Brian Swallow, Laura Yates, Luke Vale
BACKGROUND: Nausea and vomiting in pregnancy (NVP) affects up to 85% of all women during pregnancy, but for the majority self-management suffices. For the remainder, symptoms are more severe and the most severe form of NVP - hyperemesis gravidarum (HG) - affects 0.3-1.0% of pregnant women. There is no widely accepted point at which NVP becomes HG. OBJECTIVES: This study aimed to determine the relative clinical effectiveness and cost-effectiveness of treatments for NVP and HG...
October 2016: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/27721697/differential-control-efficacies-of-vitamin-treatments-against-bacterial-wilt-and-grey-mould-diseases-in-tomato-plants
#17
Jeum Kyu Hong, Hyeon Ji Kim, Heesoo Jung, Hye Ji Yang, Do Hoon Kim, Chang Hyun Sung, Chang-Jin Park, Seog Won Chang
Bacterial wilt and grey mould in tomato plants are economically destructive bacterial and fungal diseases caused by Ralstonia solanacearum and Botrytis cinerea, respectively. Various approaches including chemical and biological controls have been attempted to arrest the tomato diseases so far. In this study, in vitro growths of bacterial R. solanacearum and fungal B. cinerea were evaluated using four different vitamins including thiamine (vitamin B1), niacin (vitamin B3), pyridoxine (vitamin B6), and menadione (vitamin K3)...
October 2016: Plant Pathology Journal
https://www.readbyqxmd.com/read/27703849/atlantic-salmon-salmo-salar-require-increased-dietary-levels-of-b-vitamins-when-fed-diets-with-high-inclusion-of-plant-based-ingredients
#18
Gro-Ingunn Hemre, Erik-Jan Lock, Pål Asgeir Olsvik, Kristin Hamre, Marit Espe, Bente Elisabeth Torstensen, Joana Silva, Ann-Cecilie Hansen, Rune Waagbø, Johan S Johansen, Monica Sanden, Nini H Sissener
Aiming to re-evaluate current recommendations for nutrient supplementations when Atlantic salmon are fed diets based on plant ingredients, two regression experiments, with parr and post-smolt, were conducted. A control diet was included to evaluate if ingredients supplied sufficient nutrients without any added nutrient package (NP). The nutrient package consisted of vitamins B, C, E, minerals, cholesterol, methionine, taurine and histidine. This paper focus on B-vitamins. In parr, growth, health and welfare parameters responded on NP additions, but this was not observed in the seawater stage...
2016: PeerJ
https://www.readbyqxmd.com/read/27701665/treatments-for-hyperemesis-gravidarum-and-nausea-and-vomiting-in-pregnancy-a-systematic-review
#19
Catherine McParlin, Amy O'Donnell, Stephen C Robson, Fiona Beyer, Eoin Moloney, Andrew Bryant, Jennifer Bradley, Colin R Muirhead, Catherine Nelson-Piercy, Dorothy Newbury-Birch, Justine Norman, Caroline Shaw, Emma Simpson, Brian Swallow, Laura Yates, Luke Vale
Importance: Nausea and vomiting affects approximately 85% of pregnant women. The most severe form, hyperemesis gravidarum, affects up to 3% of women and can have significant adverse physical and psychological sequelae. Objective: To summarize current evidence on effective treatments for nausea and vomiting in pregnancy and hyperemesis gravidarum. Evidence Review: Databases were searched to June 8, 2016. Relevant websites and bibliographies were also searched...
October 4, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27697097/chromatographic-analysis-of-a-multicomponent-mixture-of-b1-b6-b12-benfotiamine-and-diclofenac-part-i-hplc-and-uplc-methods-for-the-simultaneous-quantification-of-these-five-components-in-tablets-and-capsules
#20
Maha Abdel-Monem Hegazy, Ahmed Salah Fayed, Nada Sayed Abdel Wahab
New, simple, highly sensitive, precise, and accurate gradient reversed-phase chromatographic methods were developed using HPLC and ultra-HPLC (UPLC) systems for the determination of five components, namely thiamine, pyridoxine, cyanocobalamin, benfotiamine, and diclofenac in tablets and capsules. The methods were compared for their efficiency in the separation and determination of these five compounds using two different C18 columns (250 × 4.6 mm, 5 μm; and 100 × 4.6 mm, 2.6 μm) for HPLC and UPLC, respectively...
October 1, 2016: Journal of AOAC International
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