Search our Database of Scientific Publications and Authors

I’m looking for a

    3211 results match your criteria Pyridoxine Deficiency

    1 OF 65

    Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
    Handb Exp Pharmacol 2017 Nov 10. Epub 2017 Nov 10.
    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 Oct 23. Epub 2017 Oct 23.
    Children's Hospital of Eastern Ontario Research Institute.
    Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 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 (Danio rerio) displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 dpf). 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

    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 AGXT 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 AGXT 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 AGXT 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;
    Background: The specific metabolomic perturbations that occur in vitamin B-12 deficiency, and their associations with neurological function, are not well characterized.Objective: We sought to characterize the human serum metabolome in subclinical vitamin B-12 deficiency and repletion.Methods: 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 B6, 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

    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

    [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.
    Background: 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.Objective: 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

    Small kernel2 Encodes a Glutaminase in Vitamin B6 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 B6, an essential cofactor 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 (Arabidopsis thaliana), but the specific role of vitamin B6 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 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 B 6 -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

    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,
    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 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 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

    4-Pyridoxic Acid in the Spent Dialysate: Contribution to Fluorescence and Optical Monitoring.
    PLoS One 2016 6;11(9):e0162346. Epub 2016 Sep 6.
    Department of Biomedical Engineering, Technomedicum, Tallinn University of Technology, Tallinn, Estonia.
    Aim: In this work we estimated the contribution of the fluorescence of 4-pyridoxic acid (4-PA) to the total fluorescence of spent dialysate with the aim of evaluating the on-line monitoring of removal of this vitamin B-6 metabolite from the blood of patients with end-stage renal disease (ESRD).

    Methods: Spectrofluorometric analysis of spent dialysate, collected from hemodialysis and hemodiafiltration sessions of 10 patients receiving regularly pyridoxine injections after dialysis treatment, was performed in the range of Ex/Em 220-500 nm. 4-PA in dialysate samples was identified and quantified using HPLC with fluorescent and MS/MS detection. 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

    Plasma folate, vitamin B-6, and vitamin B-12 and breast cancer risk in BRCA1- and BRCA2-mutation carriers: a prospective study.
    Am J Clin Nutr 2016 Sep 27;104(3):671-7. Epub 2016 Jul 27.
    Departments of Nutritional Sciences, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada; Women's College Research Institute, Women's College Hospital, Toronto, Canada;
    Background: B vitamins [vitamins B-6, B-9 (folate), and B-12] play important roles in nucleotide biosynthesis and biological methylation reactions, aberrancies of which have all been implicated in carcinogenesis. In the general population, evidence has suggested that high circulating folate and folic acid (synthetic form of folate) supplement use may increase breast cancer risk, but the role of folate in BRCA-associated breast cancer is not clear.

    Objective: We prospectively evaluated the relation between plasma folate, pyridoxal 5'-phosphate (PLP; the biologically active form of vitamin B-6), and vitamin B-12 and breast cancer risk in women with a BRCA1/2 mutation. 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

    1 OF 65