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 May 3. 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 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

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 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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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