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    3228 results match your criteria Pyridoxine Deficiency

    1 OF 65

    Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
    Eur J Paediatr Neurol 2018 Mar 30. Epub 2018 Mar 30.
    Department of Pediatrics, Màxima Medical Center, Veldhoven, The Netherlands. Electronic address:
    Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. Read More

    B and Bleeding: A Case Report of a Novel Vitamin Toxicity.
    Pediatrics 2018 Apr;141(Suppl 5):S430-S433
    Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina.
    Pyridox(am)ine-5-phosphate oxidase deficiency is an inborn error of vitamin B metabolism that is characterized by neonatal seizures, requiring lifelong therapy with pyridoxal-5-phosphate. We present the first case of a patient with pyridox(am)ine-5-phosphate oxidase deficiency and mild hemophilia A, whose bleeding symptoms were exacerbated by the vitamin B therapy essential for his epileptic disorder. This report expands the spectrum of known vitamin B toxicity and demonstrates a need for vigilance in monitoring for bleeding symptoms in patients requiring pyridoxine or pyridoxal-5-phosphate supplementation. Read More


    Neonatal epilepsies: Clinical management.
    Semin Fetal Neonatal Med 2018 Jan 31. Epub 2018 Jan 31.
    Department of Pediatrics, University of California, San Francisco, CA, USA; Department of Neurology, University of California, San Francisco, CA, USA. Electronic address:
    Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g. Read More

    Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
    Neuropediatrics 2018 Apr 5;49(2):154-157. Epub 2018 Feb 5.
    Division of Child Neurology, University Childreńs Hospital, Zurich, Switzerland.
    Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c. Read More

    Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
    Data Brief 2017 Dec 28;15:868-875. Epub 2017 Oct 28.
    Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Università di Roma, Via dei Sabelli 108, 00141 Roma, Italy.
    PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5'-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and clinical expression remain to be established. One of these mutations, Arg116Gln, is of particular interest because of its later onset of symptoms (beyond the first months of life) and its peculiar epileptic manifestations in patients. Read More

    CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
    Mol Genet Genomic Med 2018 Mar 20;6(2):160-170. Epub 2018 Jan 20.
    Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
    Background: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU.

    Methods: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. Read More

    Deficiency of dietary pyridoxine disturbed the intestinal physical barrier function of young grass carp (Ctenopharyngodon idella).
    Fish Shellfish Immunol 2018 Mar 12;74:459-473. Epub 2018 Jan 12.
    Animal Nutrition Institute, Sichuan Agricultural University, Chengdu, Sichuan, 611130, China; Fish Nutrition and Safety Production University Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu, Sichuan, 611130, China; Key Laboratory for Animal Disease-Resistance Nutrition of China Ministry of Education, Sichuan Agricultural University, Chengdu, Sichuan, 611130, China. Electronic address:
    The aim of this study was to assess the effects of dietary pyridoxine (PN) deficiency on intestinal antioxidant capacity, cell apoptosis and intercellular tight junction in young grass carp (Ctenopharyngodon idella). A total of 540 young grass carp (231.85 ± 0. Read More

    Vitamin B-6 and depressive symptomatology, over time, in older Latino adults.
    Nutr Neurosci 2018 Jan 16:1-12. Epub 2018 Jan 16.
    a College of Health Sciences, Department of Biomedical & Nutritional Sciences , University of Massachusetts Lowell , Lowell , MA , USA.
    Background: Low vitamin B-6 status has been linked to depressive symptomatology. We examined the longitudinal association of vitamin B-6 status with depressive symptomatology across 3-time points over ∼5-7 years in a cohort of older Hispanic adults.

    Methods: We used two-level hierarchical linear regression models for continuous outcomes. Read More

    Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review.
    J Bras Nefrol 2017 Oct-Dec;39(4):462-466
    University of Antioquia, Pablo Tobón Uribe Hospital, Department of Nephrology and Renal Transplant, Medellín, Colombia.
    Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). Read More

    A Systematic Review Evaluating the Effect of Vitamin B6 on Semen Quality.
    Urol J 2017 12 30:1-5. Epub 2017 Dec 30.
    Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
    Purpose: This review systematically discusses and summarizes the effect of vitamin B6 on semen quality.

    Material And Method: To achieve this contribution, we searched the PubMed, Scopus, and Web of Science databases for English language papers from 1984 through 2017 using the key words "sperm" versus "Vitamin B6", "pyridoxine", and "pyridoxal". Also, the references from selected published papers were included, only if relevant. Read More

    Pyridoxine Deficiency After Solid Organ Transplant.
    Prog Transplant 2017 Sep 4;27(3):251-256. Epub 2017 Jul 4.
    4 Division of Gastroenterology and Hepatology, Department of Medicine, Liver Institute, University of Arizona, Liver Institute, Tucson, AZ, USA.
    Objective: Pyridoxine is 1 of 8 B vitamins that assist in a variety of essential functions including immune functions. The purpose of this study was to assess the risk factors associated with low pyridoxine levels in solid organ transplantation recipients.

    Design: The study cohort was divided into 2 groups: (a) patients with normal pyridoxine levels or (b) patients with low pyridoxine levels. Read More

    Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
    Handb Exp Pharmacol 2018 ;245:345-383
    Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO, USA.
    Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine, chiefly due to missense mutations in the cystathionine beta-synthase (CBS) gene. As with many other inherited disorders, the pathogenic mutations do not target key catalytic residues, but rather introduce structural perturbations leading to an enhanced tendency of the mutant CBS to misfold and either to form nonfunctional aggregates or to undergo proteasome-dependent degradation. Read More

    Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
    Genetics 2017 Dec 23;207(4):1501-1518. Epub 2017 Oct 23.
    Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.
    Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish () displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 days postfertilization). Read More

    Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
    Pediatr Neurol 2017 Nov 3;76:47-53. Epub 2017 Jun 3.
    Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
    Objective: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency. Read More

    Functional vitamin B-6 status and long-term mortality in renal transplant recipients.
    Am J Clin Nutr 2017 Dec 4;106(6):1366-1374. Epub 2017 Oct 4.
    Departments of Internal Medicine and.
    Low plasma concentrations of pyridoxal 5'-phosphate (PLP) are common in renal transplant recipients (RTRs) and confer increased risk of long-term mortality. To our knowledge, it is not known whether low plasma PLP concentrations have functional (i.e. Read More

    Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability.
    Exp Ther Med 2017 Sep 9;14(3):1989-1992. Epub 2017 Jul 9.
    National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing Key Laboratory of Pediatric Organ Failure, Affiliated Bayi Children's Hospital, General Military Hospital of Beijing PLA, Beijing 100700, P.R. China.
    Pyridoxine-dependent epilepsy (PDE) is a rare disorder caused by aldehyde dehydrogenase 7 family member A1 (ALDH7A1) deficiency. The present study reported on three Chinese cases of PDE with phenotypic variability for providing further insight into this disease. All three patients presented with recurrent seizures and readily responded to treatment with pyridoxine, in line with the typical symptomology of PDE. Read More

    Dietary pyridoxine deficiency reduced growth performance and impaired intestinal immune function associated with TOR and NF-κB signalling of young grass carp (Ctenopharyngodon idella).
    Fish Shellfish Immunol 2017 Nov 23;70:682-700. Epub 2017 Sep 23.
    Animal Nutrition Institute, Sichuan Agricultural University, Chengdu, Sichuan 611130, China; Fish Nutrition and Safety Production University Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu, Sichuan 611130, China; Key Laboratory for Animal Disease-Resistance Nutrition of China Ministry of Education, Sichuan Agricultural University, Chengdu, Sichuan 611130, China. Electronic address:
    The objective of this study was to evaluate the effects of dietary pyridoxine (PN) deficiency on growth performance, intestinal immune function and the potential regulation mechanisms in young grass carp (Ctenopharyngodon idella). Fish were fed six diets containing graded levels of PN (0.12-7. Read More

    Dietary vitamin B6 modulates the gene expression of myokines, Nrf2-related factors, myogenin and HSP60 in the skeletal muscle of rats.
    Exp Ther Med 2017 Oct 3;14(4):3239-3246. Epub 2017 Aug 3.
    Graduate School of Biosphere Science, Hiroshima University, Higashi-Hiroshima 739-8528, Japan.
    Previous studies have suggested that vitamin B6 is an ergogenic factor. However, the role of dietary vitamin B6 in skeletal muscle has not been widely researched. The aim of the present study was to investigate the effects of dietary vitamin B6 on the gene expression of 19 myokines, 14 nuclear factor erythroid 2-related factor 2 (Nrf2)-regulated factors, 8 myogenesis-related factors and 4 heat shock proteins (HSPs), which may serve important roles in skeletal muscles. Read More

    Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated Allele in a 2-year-old Child.
    Indian J Nephrol 2017 Sep-Oct;27(5):402-405
    Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Orbassano, Torino, Italy.
    Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p. Read More

    Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
    Mol Genet Metab 2017 Sep 12;122(1-2):135-142. Epub 2017 Aug 12.
    Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Università di Roma, Italy. Electronic address:
    Background: Pyridoxal-5-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established.

    Objective: This paper aims to characterize the functional effects of the c. Read More

    Vitamin B6 is essential for serine de novo biosynthesis.
    J Inherit Metab Dis 2017 Nov 11;40(6):883-891. Epub 2017 Aug 11.
    Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, KC02.069.1, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
    Pyridoxal 5'-phosphate (PLP), the metabolically active form of vitamin B6, plays an essential role in brain metabolism as a cofactor in numerous enzyme reactions. PLP deficiency in brain, either genetic or acquired, results in severe drug-resistant seizures that respond to vitamin B6 supplementation. The pathogenesis of vitamin B6 deficiency is largely unknown. Read More

    The Human Serum Metabolome of Vitamin B-12 Deficiency and Repletion, and Associations with Neurological Function in Elderly Adults.
    J Nutr 2017 Aug 9. Epub 2017 Aug 9.
    USDA Agricultural Research Service, Western Human Nutrition Research Center, Davis, CA;
    The specific metabolomic perturbations that occur in vitamin B-12 deficiency, and their associations with neurological function, are not well characterized. We sought to characterize the human serum metabolome in subclinical vitamin B-12 deficiency and repletion. A before-and-after treatment study provided 1 injection of 10 mg vitamin B-12 (with 100 mg pyridoxine and 100 mg thiamin) to 27 community-dwelling elderly Chileans (∼74 y old) with vitamin B-12 deficiency, as evaluated with serum vitamin B-12, total plasma homocysteine (tHcy), methylmalonic acid (MMA), and holotranscobalamin. Read More

    An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
    Anal Chem 2017 Sep 17;89(17):8892-8900. Epub 2017 Aug 17.
    Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.
    We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B, affected patients can have a normal developmental outcome. Read More

    Micronutrient Alterations During Continuous Renal Replacement Therapy in Critically Ill Adults: A Retrospective Study.
    Nutr Clin Pract 2017 Jul 1:884533617716618. Epub 2017 Jul 1.
    4 Division of Endocrinology, Metabolism, and Lipids, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
    Background: Continuous renal replacement therapy (CRRT) is commonly used to provide renal replacement therapy in the intensive care unit. Limited published data suggest that CRRT may lead to depletion of water-soluble vitamins and trace elements. The goal of this study was to identify the incidence of trace element and vitamin deficiencies in critically ill patients during CRRT. Read More

    The vitamin B6 paradox: Supplementation with high concentrations of pyridoxine leads to decreased vitamin B6 function.
    Toxicol In Vitro 2017 Oct 14;44:206-212. Epub 2017 Jul 14.
    Department of Pharmacology and Toxicology, Maastricht University, Maastricht, The Netherlands.
    Vitamin B6 is a water-soluble vitamin that functions as a coenzyme in many reactions involved in amino acid, carbohydrates and lipid metabolism. Since 2014, >50 cases of sensory neuronal pain due to vitamin B6 supplementation were reported. Up to now, the mechanism of this toxicity is enigmatic and the contribution of the various B6 vitamers to this toxicity is largely unknown. Read More

    Low Alanine Aminotransferase Levels in the Elderly: Frailty, Disability, Sarcopenia and Reduced Survival.
    J Gerontol A Biol Sci Med Sci 2017 Jun 19. Epub 2017 Jun 19.
    Clinical Medicine and Hepatology Department, Campus Bio-Medico University, Rome, Italy.
    Background: Although low alanine aminotransferase (ALT) levels have been associated with poor outcomes in the elderly, the determinants subtending this association have been poorly explored. To gain insight into this topic, we analyzed data from a prospective population-based database (InCHIANTI study) in which frailty, disability, sarcopenia and pyridoxine levels were systematically assessed.

    Methods: Data are from 765 participants aged >65 years (mean age 75. Read More

    Cystathionine β-synthase deficiency: Of mice and men.
    Mol Genet Metab 2017 Jul 19;121(3):199-205. Epub 2017 May 19.
    Cancer Biology Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA. Electronic address:
    Cystathionine β-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. Read More

    Nutrients and Neurology.
    Continuum (Minneap Minn) 2017 Jun;23(3, Neurology of Systemic Disease):822-861
    Purpose Of Review: This article provides an update on the clinical presentation and management of neurologic disease related to key nutrient deficiencies.

    Recent Findings: Major advances have been made in understanding the pathway related to vitamin B12 absorption and distribution. It is now known that deficiencies of vitamin B12 and copper have similar neurologic manifestations. Read More

    Acute nutritional axonal neuropathy.
    Muscle Nerve 2018 Jan 19;57(1):33-39. Epub 2017 Jun 19.
    University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, New York, 14642, USA.
    Introduction: This study describes clinical, laboratory, and electrodiagnostic features of a severe acute axonal polyneuropathy common to patients with acute nutritional deficiency in the setting of alcoholism, bariatric surgery (BS), or anorexia.

    Methods: Retrospective analysis of clinical, electrodiagnostic, and laboratory data of patients with acute axonal neuropathy.

    Results: Thirteen patients were identified with a severe, painful, sensory or sensorimotor axonal polyneuropathy that developed over 2-12 weeks with sensory ataxia, areflexia, variable muscle weakness, poor nutritional status, and weight loss, often with prolonged vomiting and normal cerebrospinal fluid protein. Read More

    [Novel therapies in neurometabolic diseases: the importance of early intervention].
    Rev Neurol 2017 May;64(s03):S25-S28
    Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
    Introduction: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment.

    Development: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. Read More

    Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy.
    Brain Behav 2017 May 7;7(5):e00698. Epub 2017 Apr 7.
    Department of Neurology and Clinical NeurophysiologyHannover Medical SchoolHannoverGermany.
    Objectives: To determine the possible interactions between levodopa therapy and plasma levels of B vitamins in patients with advanced idiopathic Parkinson's disease (IPD) in the context of either oral levodopa therapy or levodopa/carbidopa intestinal gel (LCIG). Secondly, to determine the prevalence of neuropathy and its relation to plasma levels of B vitamins and homocysteine.

    Methods: Medication doses, neurographies, and serum levels of pyridoxine, cobalamin, folate, and homocysteine of eight LCIG and 13 orally treated advanced IPD patients matched for age, Hoehn & Yahr stage, and UPRDS III were collected. Read More

    Vitamin B-6 deficiency is common and associated with poor long-term outcome in renal transplant recipients.
    Am J Clin Nutr 2017 Jun 3;105(6):1344-1350. Epub 2017 May 3.
    Department of Internal Medicine.
    Previous studies have reported low circulating concentrations of pyridoxal-5-phospate (PLP) in renal transplant recipients (RTRs). It is unknown whether this is because of low intake or altered handling, and it is also unknown whether variation in circulating concentrations of PLP influences long-term outcome. We compared vitamin B-6 intake and circulating PLP concentrations of RTRs with those of healthy controls and investigated long-term clinical implications of vitamin B-6 deficiency in stable outpatient RTRs. Read More

    Encodes a Glutaminase in Vitamin B Biosynthesis Essential for Maize Seed Development.
    Plant Physiol 2017 Jun 13;174(2):1127-1138. Epub 2017 Apr 13.
    Key Lab of Plant Cell Engineering and Germplasm Innovation, Ministry of Education, School of Life Sciences, Shandong University, Jinan 250100, China (Y.-Z.Y., S.D., Y.W., C.-L.L., Y.S., B.-C.T.);
    Vitamin B, an essential cofactor for a range of biochemical reactions and a potent antioxidant, plays important roles in plant growth, development, and stress tolerance. Vitamin B deficiency causes embryo lethality in Arabidopsis (), but the specific role of vitamin B biosynthesis in endosperm development has not been fully addressed, especially in monocot crops, where endosperm constitutes the major portion of the grain. Through molecular characterization of a () mutant in maize, we reveal that vitamin B has differential effects on embryogenesis and endosperm development in maize. Read More

    Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.
    J Med Genet 2017 Dec 8;54(12):809-814. Epub 2017 Apr 8.
    radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.
    Vitamin-B-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes ( or ). In neonatal seizures, defects in explain a major fraction of cases. Very recently biallelic mutations in were shown to be a novel cause in five families. Read More

    Effects of Vitamin B6 Deficiency on the Composition and Functional Potential of T Cell Populations.
    J Immunol Res 2017 6;2017:2197975. Epub 2017 Mar 6.
    Research Center for Food Safety and Nutrition, Key Lab of Urban Agriculture (South), Bor S. Luh Food Safety Research Center, School of Agriculture & Biology, Shanghai Jiao Tong University, Shanghai 200240, China.
    The immune system is critical in preventing infection and cancer, and malnutrition can weaken different aspects of the immune system to undermine immunity. Previous studies suggested that vitamin B6 deficiency could decrease serum antibody production with concomitant increase in IL4 expression. However, evidence on whether vitamin B6 deficiency would impair immune cell differentiation, cytokines secretion, and signal molecule expression involved in JAK/STAT signaling pathway to regulate immune response remains largely unknown. Read More

    Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.
    Metab Brain Dis 2017 Aug 27;32(4):1081-1087. Epub 2017 Mar 27.
    Department of Pediatrics, Peking University First Hospital, No.1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
    To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. The clinical presentations and the responses to treatments were analyzed in 4 patients. Blood and urinary metabolic screenings, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and epilepsy-related genes detection were performed in all patients. Read More

    [Deficiency of Magnesium and Pyridoxine as a Risk Factors for Coronary Heart Disease].
    Kardiologiia 2016 Oct;56(10):55-62
    Ivanovo State Medical Academy, Ivanovo, Russia.
    Deficiency of magnesium and vitamin 6 is a modifiable risk factor for coronary heart disease (CHD). A combined deficiency of magnesium and vitamin 6 disrupts the functioning myocardial tissue due to the formation of endothelial dysfunction, prothrombotic changes in blood viscosity characteristics, improve vascular tone, failure of the mitochondria. Receiving organic magnesium salts in combination with adequate doses of pyridoxine can be effective in the prevention and treatment of CHD. Read More

    Vitamin B-6 and colorectal cancer risk: a prospective population-based study using 3 distinct plasma markers of vitamin B-6 status.
    Am J Clin Nutr 2017 Apr 8;105(4):897-904. Epub 2017 Mar 8.
    Departments of Medical Biosciences, Pathology,
    Higher plasma concentrations of the vitamin B-6 marker pyridoxal 5'-phosphate (PLP) have been associated with reduced colorectal cancer (CRC) risk. Inflammatory processes, including vitamin B-6 catabolism, could explain such findings. We investigated 3 biomarkers of vitamin B-6 status in relation to CRC risk. Read More

    Evaluation of Vitamin and Trace Element Requirements after Sleeve Gastrectomy at Long Term.
    Obes Surg 2017 Jul;27(7):1674-1682
    Endocrinology and Nutrition Service, Department of Medicine, Universitat Autònoma de Barcelona, Germans Trias i Pujol University Hospital and Research Institute, Carretera de Canyet sn, 08916, Badalona, Spain.
    Background: Nutritional deficiencies are common after bariatric surgery, but data are scarce after sleeve gastrectomy (SG) at long term.

    Methods: We performed a prospective nutritional status evaluation before and at 2 and 5 years after SG in morbid obese patients receiving mulvitamin and mineral supplementation at a Spanish university hospital. One hundred seventy-six patients (49. Read More

    Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.
    BMJ Case Rep 2017 Jan 30;2017. Epub 2017 Jan 30.
    Department of Endocrinology, University Hospital of Birmingham, Birmingham, UK.
    A 30-year-old woman presented with severe headache, dysarthria and right hemiparesis. She was treated for suspected viral encephalopathy and recovered over the following weeks although the headaches persisted. Two months later she was treated in-hospital for pulmonary embolism. Read More

    Identification and characterization of a pyridoxal 5'-phosphate phosphatase in the silkworm (Bombyx mori).
    Comp Biochem Physiol B Biochem Mol Biol 2017 Mar 10;205:39-45. Epub 2017 Jan 10.
    School of Tea and Food Science & Technology, Anhui Agricultural University, Hefei 230036, People's Republic of China. Electronic address:
    Vitamin B comprises six interconvertible pyridine compounds, among which pyridoxal 5'-phosphate (PLP) is a coenzyme for over 140 enzymes. PLP is also a very reactive aldehyde. The most well established mechanism for maintaining low levels of free PLP is its dephosphorylation by phosphatases. Read More

    Protective abilities of pyridoxine in experimental oxidative stress settings in vivo and in vitro.
    Biomed Pharmacother 2017 Feb 23;86:537-540. Epub 2016 Dec 23.
    H. Buniatian Institute of Biochemistry, NAS, 5/1 Paruyr Sevak Street, Yerevan 0014, Armenia.
    Background: Pyridoxine (Pr, B6) or its active form pyridoxal phosphate (PLP, B6) deficiency promotes oxidative lipid peroxidation and exacerbates the oxidative stress. From the other hand, by our previous experiments we proved that B6 is able strongly inhibit Xanthine Oxidase (XO) activity, which is an enzyme responsible for the formation of uric acid and hydrogen peroxide.

    Methods: Cells were cultured by Mattson M. Read More

    Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.
    J Med Case Rep 2016 Dec 20;10(1):358. Epub 2016 Dec 20.
    Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, PO Box 65141, Dar es Salaam, Tanzania.
    Background: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations. Read More

    Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B-Dependent Epilepsy.
    Am J Hum Genet 2016 Dec;99(6):1325-1337
    Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK. Electronic address:
    Pyridoxal 5'-phosphate (PLP), the active form of vitamin B, 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 B 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. Read More

    Vitamin B6 metabolism in microbes and approaches for fermentative production.
    Biotechnol Adv 2017 Jan - Feb;35(1):31-40. Epub 2016 Nov 24.
    Department of General Microbiology, Georg-August-University of Göttingen, Grisebachstr. 8, D-37077 Göttingen, Germany. Electronic address:
    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. Read More

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