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

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

Mol Genet Metab 2017 Aug 12. 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

J Inherit Metab Dis 2017 Aug 11. 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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