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    Small kernel2 encodes a glutaminase in vitamin B6 biosynthesis essential for maize seed development.
    Plant Physiol 2017 Apr 13. Epub 2017 Apr 13.
    Shandong University CITY: Jinan POSTAL_CODE: 852 China [CN]
    Vitamin B6, an essential co-factor for a range of biochemical reactions and a potent antioxidant, plays important roles in plant growth, development, and stress tolerance. Vitamin B6 deficiency causes embryo lethality in Arabidopsis, but the specific role of vitamin B6 synthesis 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 small kernel2 (smk2) mutant in maize, we reveal that vitamin B6 has differential effects on embryogenesis and endosperm development in maize. Read More

    Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy.
    J Med Genet 2017 Apr 8. 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-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. 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 Mar 27. 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,
    Background: 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.Objective: 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 Feb 4. Epub 2017 Feb 4.
    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 B6 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-B6-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 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. 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

    Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
    Mol Cell Probes 2017 Apr 14;32:18-23. Epub 2016 Nov 14.
    Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.
    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. Read More

    Thiamin, Pyridoxine, Vitamin D, and Carotene Deficiency in a Malnourished Patient Following Billroth II Gastrectomy.
    Nutr Clin Pract 2017 Apr 4;32(2):271-274. Epub 2016 Nov 4.
    1 Department of Pharmacy, UF Health Shands Hospital, Gainesville, Florida, USA.
    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. Read More

    Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
    J Inherit Metab Dis 2017 Jan 24;40(1):49-74. Epub 2016 Oct 24.
    Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.
    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. Read More

    [Primary hyperoxaluria: A review].
    Nephrol Ther 2016 Nov 29;12(6):431-436. Epub 2016 Jun 29.
    Laboratoire de biochimie-toxicologie, CHU Fattouma Bourguiba, 5111 Monastir, Tunisie.
    Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. Read More

    Choline and betaine ameliorate liver lipid accumulation induced by vitamin B6 deficiency in rats.
    Biosci Biotechnol Biochem 2017 Feb 4;81(2):316-322. Epub 2016 Oct 4.
    a The United Graduate School of Agricultural Science , Gifu University , Gifu , Japan.
    We investigated the efficacy of supplementing the diet with choline or betaine in ameliorating lipid accumulation induced by vitamin B6 (B6) deficiency in rat liver. Male Wistar rats were fed a control, B6-deficient, choline-supplemented (2, 4, or 6 g choline bitartrate/kg diet) B6-deficient diet or betaine-supplemented (1, 2, or 4 g betaine anhydrous/kg diet) B6-deficient diet for 35 d; all diets contained 9 g L-methionine (Met)/kg diet. Choline or betaine supplementation attenuated liver lipid deposition and restored plasma lipid profiles to control levels. Read More

    Peripheral nerve involvement in classic homocystinuria: an unusual association.
    BMJ Case Rep 2016 Sep 28;2016. Epub 2016 Sep 28.
    Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal.
    Classic homocystinuria is one of the most common causes of hereditary hyperhomocysteinemia. It is an autosomal recessive and multisystemic disorder due to cystathionine β-synthase deficiency. We described a case of an 18-year-old Portuguese man with an ischaemic stroke, who was subsequently diagnosed with classic homocystinuria [Thr191Met (c. Read More

    Reduced plasma concentrations of vitamin B6 and increased plasma concentrations of the neurotoxin 3-hydroxykynurenine are associated with nodding syndrome: a case control study in Gulu and Amuru districts, Northern Uganda.
    Pan Afr Med J 2016 8;24:123. Epub 2016 Jun 8.
    Department of Pathology, Makerere University College of Health Sciences, P.O Box 7072 Kampala.
    Introduction: Nodding syndrome was first reported in Uganda in 2003 among internally displaced populations. Risk factors for the syndrome remain unknown. We therefore explored vitamin B6 deficiency and resulting high 3-hydroxykynurenine (3-HK) levels as risk factor for nodding syndrome in Northern Uganda. Read More

    Prevalence and Predictors of Low Vitamin B6 Status in Healthy Young Adult Women in Metro Vancouver.
    Nutrients 2016 Sep 1;8(9). Epub 2016 Sep 1.
    Food Nutrition and Health, Faculty of Land and Food Systems, The University of British Columbia, 2205 East Mall, Vancouver, BC V6T 1Z4, Canada.
    Low periconceptional vitamin B6 (B6) status has been associated with an increased risk of preterm birth and early pregnancy loss. Given many pregnancies are unplanned; it is important for women to maintain an adequate B6 status throughout reproductive years. There is limited data on B6 status in Canadian women. Read More

    Amenable Treatable Severe Pediatric Epilepsies.
    Semin Pediatr Neurol 2016 May 7;23(2):158-66. Epub 2016 Jun 7.
    Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address:
    Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood. Read More

    Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.
    Neuropediatrics 2016 Dec 14;47(6):399-403. Epub 2016 Aug 14.
    Département de Pathologie, CHU Sainte-Justine-Université de Montréal, Quebec, Canada.
    We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status epilepticus, and infantile spasms appeared later, during the first months of life, while erratic myoclonic jerks persisted. Electroencephalogram initially showed multifocal spikes that evolved into modified hypsarrhythmia and then discontinuous activity, evoking the progressive nature of the condition. Read More

    Pyridoxine-dependent epilepsy: report on three families with neuropathology.
    Metab Brain Dis 2016 Dec 20;31(6):1435-1443. Epub 2016 Jul 20.
    Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen, 76000, France.
    Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. Read More

    The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
    Saudi J Kidney Dis Transpl 2016 Jul-Aug;27(4):791-4
    Department of Nephrology, Dr. Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Primary hyperoxaluria Type-1 (PH-1) is caused by a deficiency of alanine-glyoxylate aminotransferase manifesting as urolithiasis, nephrocalcinosis, and end-stage renal disease (ESRD). Among treatment options, best outcomes have been achieved by sequential liver-kidney transplantation (Seq-LKT). Herein, we report a patient with PH-1 and ESRD who underwent Seq-LKT in Iran. Read More

    Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.
    FEBS Open Bio 2016 May 22;6(5):398-408. Epub 2016 Mar 22.
    Department of Medicinal Chemistry School of Pharmacy and Institute for Structural Biology, Drug Discovery and Development Virginia Commonwealth University Richmond VA USA.
    Pyridoxal 5'-phosphate (PLP) is a cofactor for many vitamin B6-requiring enzymes that are important for the synthesis of neurotransmitters. Pyridoxine 5'-phosphate oxidase (PNPO) is one of two enzymes that produce PLP. Some 16 known mutations in human PNPO (hPNPO), including R95C and R229W, lead to deficiency of PLP in the cell and have been shown to cause neonatal epileptic encephalopathy (NEE). Read More

    The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
    J Inherit Metab Dis 2016 Sep 24;39(5):733-41. Epub 2016 Jun 24.
    Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
    Background: Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. This has so far been investigated in only a small number of patients. Read More

    Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.
    Mol Genet Metab 2016 Jul 8;118(3):167-72. Epub 2016 May 8.
    Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA; Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
    Pyridoxine-Dependent Epilepsy (PDE) is a recessive disorder caused by deficiency of α-aminoadipic semialdehyde dehydrogenase in the catabolic pathway of lysine. It is characterized by intractable seizures controlled by the administration of pharmacological doses of vitamin B6. Despite seizure control with pyridoxine, intellectual disability and developmental delays are still observed in some patients with PDE, likely due to the accumulation of toxic intermediates in the lysine catabolic pathway: alpha-aminoadipic semialdehyde (AASA), delta-1-piperideine-6-carboxylate (P6C), and pipecolic acid. Read More

    Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.
    Front Neurosci 2016 10;10:192. Epub 2016 May 10.
    School for Engineering of Matter, Transport, and Energy, Arizona State University Tempe, AZ, USA.
    This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and γ-aminobutyric acid (GABA) neurotransmission. The peripheral neuropil, which is the region that contains the inhibition circuits of the minicolumns, has been found to be decreased in the post-mortem ASD brain. Read More

    A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
    Pediatr Neurol 2016 Jul 13;60:60-5. Epub 2016 Apr 13.
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:
    Background: Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE-ALDH7A1), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-aminoadipic-acid-semialdehyde.

    Patient Description And Results: We present a three-year treatment outcome of a child with PDE-ALDH7A1 on pyridoxine (started at age three weeks of age), lysine-restricted diet (started at age seven months), and arginine supplementation therapy (started at age 26 months). He had a markedly elevated urinary α-aminoadipic-acid-semialdehyde (39. Read More

    Involvement of Vitamin B6 Biosynthesis Pathways in the Insecticidal Activity of Photorhabdus luminescens.
    Appl Environ Microbiol 2016 Jun 31;82(12):3546-53. Epub 2016 May 31.
    Department of Environmental Biology, College of Bioscience and Biotechnology, Chubu University, Kasugai, Aichi, Japan
    Unlabelled: Photorhabdus luminescens is a Gram-negative entomopathogenic bacterium which symbiotically associates with the entomopathogenic nematode Heterorhabditis bacteriophora P. luminescens is highly virulent to many insects and nonsymbiotic nematodes, including Caenorhabditis elegans To understand the virulence mechanisms of P. luminescens, we obtained virulence-deficient and -attenuated mutants against C. Read More

    Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
    Mol Genet Metab Rep 2016 Mar 10;6:60-3. Epub 2016 Feb 10.
    Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
    We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c. Read More

    Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
    Pediatr Neurol 2016 Jun 11;59:6-12. Epub 2016 Jan 11.
    Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, British Columbia, Canada. Electronic address:
    Background: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Read More

    Short-Term Vitamin B-6 Restriction Does Not Affect Plasma Concentrations of Hydrogen Sulfide Biomarkers Lanthionine and Homolanthionine in Healthy Men and Women.
    J Nutr 2016 Mar 9. Epub 2016 Mar 9.
    Food Science and Human Nutrition Department, Institute of Food and Agricultural Sciences, University of Florida, Gainesville, FL
    Background: Suboptimal vitamin B-6 status is associated with increased cardiovascular disease risk, although the mechanism is unknown. The synthesis of the vasodilator hydrogen sulfide occurs through side reactions of the transsulfuration enzymes cystathionine β-synthase and cystathionine γ-lyase, with pyridoxal 5'-phosphate as a coenzyme. Two proposed hydrogen sulfide biomarkers, lanthionine and homolanthionine, are produced concurrently. Read More

    Klin Khir 2015 Oct(10):35-8
    A timely and adequate application of complex of conservative and surgical measures determines at large the result of treatment of a newbor babies, suffering perinatal intracranial hematoma. The treatment includes, besides neurosurgical manipulations and operations, providing of evacuation of the blood extrused, the intracranial pressure normalization, liquorocirculation restoration, correction of hemodynamical and metabolic disorders, antiedematous, membrane-stabilizing and anticonvulsant therapy. A control of metabolic disorders, as well as especially hypoglycemia, hypocalcemia, hypomagnesemia, hypopyridoxinemia constitutes a leading moment of the treatment Read More

    Maternal vitamin B6 deficient or supplemented diets on expression of genes related to GABAergic, serotonergic, or glutamatergic pathways in hippocampus of rat dams and their offspring.
    Mol Nutr Food Res 2016 Jul 29;60(7):1615-24. Epub 2016 Mar 29.
    School of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
    Scope: Vitamin B6 plays crucial roles on brain development and its maternal deficiency impacts the gamma-aminobutyric acid (GABA)ergic, serotonergic, glutamatergic, and dopaminergic systems in offspring. However, the molecular mechanisms underlying these neurological changes are not well understood. Thus, we aimed at evaluating which components of those neurotransmitter metabolism and signaling pathways can be modulated by maternal vitamin B6 -deficient or B6 -supplementated diets in the hippocampus of rat dams and their offspring. Read More

    Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.
    Curr Drug Targets 2016 ;17(13):1455-70
    Department of Pediatrics, School of Medicine, University of Colorado, 12800 E 19th Ave, Mail Stop 8313, Aurora, CO, 80045, USA.
    Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acids 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 betasynthase (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 non-functional aggregates or to undergo proteasome-dependent degradation. Read More

    Impact of the Increased Recommended Dosage of Isoniazid on Pyridoxine Levels in Children and Adolescents.
    Pediatr Infect Dis J 2016 May;35(5):586-9
    From the *Infectious Diseases Unit, Pediatrics Department, and †Pediatric Tuberculosis Unit, Nursing Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; and ‡Department of Biochemistry and Inborn Errors of Metabolism, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
    Isoniazid exposure causes dose-dependent pyridoxine deficiency. Recently, the recommended dosage of isoniazid in children was increased from 5 (4-6) to 10 (10-15) mg/kg/day. We aimed to analyze longitudinally pyridoxine levels in a cohort of previously healthy children and adolescents treated with isoniazid. Read More

    Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
    Biochim Biophys Acta 2016 Jun 6;1862(6):1055-62. Epub 2016 Feb 6.
    Department of Cell & Developmental Biology, University College London, London WC1E 6BT, UK.
    The hereditary kidney stone disease primary hyperoxaluria type 1 (PH1) is caused by a functional deficiency of the liver-specific, peroxisomal, pyridoxal-phosphate-dependent enzyme, alanine:glyoxylate aminotransferase (AGT). One third of PH1 patients, particularly those expressing the p.[(Pro11Leu; Gly170Arg; Ile340Met)] mutant allele, respond clinically to pharmacological doses of pyridoxine. Read More

    Carnosine Content in Skeletal Muscle Is Dependent on Vitamin B6 Status in Rats.
    Front Nutr 2015 19;2:39. Epub 2016 Jan 19.
    Graduate School of Biosphere Science, Hiroshima University , Higashi-Hiroshima , Japan.
    Carnosine, a histidine-containing dipeptide, is well known to be associated with skeletal muscle performance. However, there is limited information on the effect of dietary micronutrients on muscle carnosine level. Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, is involved in amino acid metabolisms in the body as a cofactor. Read More

    Ginkgotoxin Induced Seizure Caused by Vitamin B6 Deficiency.
    J Epilepsy Res 2015 Dec 31;5(2):104-6. Epub 2015 Dec 31.
    Department of Neurology, Bundang Jesaeng General Hospital, Seongnam, Korea.
    Although ginkgo is commonly used as an alternative treatment for memory loss, Alzheimer's dementia and peripheral circulatory disturbances, it is also known to cause neuronal symptoms due to ginkgotoxin (4'-methoxypyridoxine or B6 antivitamin). We experienced a case of a 51-year-old female patient with generalized tonic clonic seizure and postictal confusion after eating large amounts of ginkgo nuts. Blood vitamin B6 level was decreased. Read More

    Vitamin B6 nutritional status and cellular availability of pyridoxal 5'-phosphate govern the function of the transsulfuration pathway's canonical reactions and hydrogen sulfide production via side reactions.
    Biochimie 2016 Jul 4;126:21-6. Epub 2016 Jan 4.
    Division of Endocrinology and Metabolism, Departments of Biochemistry and Medicine, College of Medicine, University of Florida, Gainesville, FL, USA.
    The transsulfuration pathway (TS) acts in sulfur amino acid metabolism by contributing to the regulation of cellular homocysteine, cysteine production, and the generation of H2S for signaling functions. Regulation of TS pathway kinetics involves stimulation of cystathionine β-synthase (CBS) by S-adenosylmethionine (SAM) and oxidants such as H2O2, and by Michaelis-Menten principles whereby substrate concentrations affect reaction rates. Although pyridoxal phosphate (PLP) serves as coenzyme for both CBS and cystathionine γ-lyase (CSE), CSE exhibits much greater loss of activity than CBS during PLP insufficiency. Read More

    High-performance liquid chromatographic method for profiling 2-oxo acids in urine and its application in evaluating vitamin status in rats.
    Biosci Biotechnol Biochem 2016 7;80(2):304-12. Epub 2015 Sep 7.
    a Department of Nutrition, School of Human Cultures , University of Shiga Prefecture , Hikone , Japan.
    B-group vitamins are involved in the catabolism of 2-oxo acids. To identify the functional biomarkers of B-group vitamins, we developed a high-performance liquid chromatographic method for profiling 2-oxo acids in urine and applied this method to urine samples from rats deficient in vitamins B1 and B6 and pantothenic acid. 2-Oxo acids were reacted with 1,2-diamino-4,5-methylenebenzene to produce fluorescent derivatives, which were then separated using a TSKgel ODS-80Ts column with 30 mmol/L of KH2PO4 (pH 3. Read More

    Acquired acrodermatitis enteropathica after gastric bypass surgery responsive to IV supplementation.
    Dermatol Online J 2016 Nov 15;22(11). Epub 2016 Nov 15.
    Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
    Nutritional deficiency is rare in developed countries, but can be acquired from decreased nutrient intake, reduced absorption, and increased gastrointestinal excretion. We report a patient with acquired acrodermatitis enteropathica (AE) who exhibited low plasma zinc levels and concurrent nutritional deficiencies (pyridoxine, selenium and fatty acids). Our patient had undergone Roux-en-Y gastric bypass 13 years prior to presentation. Read More

    Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.
    Epilepsy Res 2016 Jan 1;119:20-3. Epub 2015 Dec 1.
    Department of Pharmacology, Northwestern University, Feinberg School of Medicine, Searle 8-520, 320 East Superior St., Chicago, IL 60091, United States; Department of Medicine, Vanderbilt University, Nashville, TN 37232, United States. Electronic address:
    Mutations in voltage-gated sodium channel genes cause several types of human epilepsies. Often, individuals with the same sodium channel mutation exhibit diverse phenotypes. This suggests that factors beyond the primary mutation influence disease severity, including genetic modifiers. Read More

    Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
    Tohoku J Exp Med 2015 ;237(4):323-7
    Department of Pediatrics, Graduate School of Medicine, Gifu University.
    Cystathionine β-synthase (CBS) deficiency, well known as classical homocystinuria, is a rare autosomal recessive inborn error of homocysteine and sulfur metabolism. CBS converts homocysteine to cystathionine. The clinical features of untreated CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Read More

    Protective Effects of Tinospora cordifolia on Hepatic and Gastrointestinal Toxicity Induced by Chronic and Moderate Alcoholism.
    Alcohol Alcohol 2016 Jan 19;51(1):1-10. Epub 2015 Nov 19.
    Department of Biochemistry, Maharshi Dayanand University, Rohtak, Haryana 124001, India
    Aims: Heavy alcohol intake depletes the plasma vitamins due to hepatotoxicity and decreased intestinal absorption. However, moderate alcohol intake is often thought to be healthy. Therefore, effects of chronic moderate alcohol intake on liver and intestine were studied using urinary vitamin levels. Read More

    A Vitamin B-6 Antagonist from Flaxseed Perturbs Amino Acid Metabolism in Moderately Vitamin B-6-Deficient Male Rats.
    J Nutr 2016 Jan 18;146(1):14-20. Epub 2015 Nov 18.
    Department of Human Nutritional Sciences and Department of Animal Science, University of Manitoba, Winnipeg, Canada; and St-Boniface Hospital Research Centre, Winnipeg, Canada
    Background: Pyridoxal 5'-phosphate (PLP) plays a crucial role as a cofactor in amino acid metabolism. There is a prevalence of moderate vitamin B-6 deficiency in the population that may be exacerbated through the ingestion of 1-amino d-proline (1ADP), a vitamin B-6 antagonist found in flaxseed.

    Objective: Given prior evidence of the impact of synthetic 1ADP on indexes of pyridoxine metabolism, the current study was designed to investigate the effects of 1ADP derived from flaxseed on amino acid metabolism in moderately vitamin B-6-deficient rats. Read More

    Antiretroviral therapy provided to HIV-infected Malawian women in a randomized trial diminishes the positive effects of lipid-based nutrient supplements on breast-milk B vitamins.
    Am J Clin Nutr 2015 Dec 4;102(6):1468-74. Epub 2015 Nov 4.
    Department of Nutrition, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC;
    Background: Little information is available on B vitamin concentrations in human milk or on how they are affected by maternal B vitamin deficiencies, antiretroviral therapy, or maternal supplementation.

    Objective: The objective was to evaluate the effects of antiretroviral therapy and/or lipid-based nutrient supplements (LNSs) on B vitamin concentrations in breast milk from HIV-infected women in Malawi.

    Design: Breast milk was collected from 537 women recruited within the Breastfeeding, Antiretrovirals, and Nutrition study at 2 or 6 wk and 24 wk postpartum. Read More

    Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
    Genet Mol Res 2015 Oct 30;14(4):14130-5. Epub 2015 Oct 30.
    Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
    Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO). Neonatal onset seizures in PLP responsive epilepsy are usually resistant to common anticonvulsants and pyridoxine, but respond to PLP. Various PNPO mutations are associated with this disorder. Read More

    High homocysteine, low vitamin B-6, and increased oxidative stress are independently associated with the risk of chronic kidney disease.
    Nutrition 2016 Feb 25;32(2):236-41. Epub 2015 Sep 25.
    School of Nutrition, Chung Shan Medical University, Taichung, Taiwan; Department of Nutrition, Chung Shan Medical University Hospital, Taichung, Taiwan. Electronic address:
    Objective: Hyperhomocysteinemia, increased oxidative stress, and decreased antioxidant defense function have been found to be associated with the risk of chronic kidney disease (CKD). Deficiencies of folate and vitamin B-6 (pyridoxal 5'-phosphate, PLP) may cause hyperhomocysteinemia and increased oxidative stress. The purpose of this study was to determine the associations among homocysteine, folate, PLP, oxidative stress indicator, and antioxidant capacities in patients with stage 2 to 3 CKD, and to further analyze these relationships with respect to risk for CKD. Read More

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