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Nutrients 2020 Jun 17;12(6). Epub 2020 Jun 17.

Department of Food and Nutrition, Chungnam National University, Daejeon 34134, Korea.

Vitamins are the essential elements for human life and, particularly, for infant health. Human milk is the best source of nutrients for newborns, however, the information of vitamins in Asian maternal milk is still limited. In this study, we have collected 580 Asian maternal milk samples from Korea ( = 254), China ( = 137), Pakistan ( = 92), and Vietnam ( = 97). Read More

Gen Hosp Psychiatry 2020 May 28. Epub 2020 May 28.

Department of Psychiatry, University of Calgary, 2500 University Drive NW, Calgary, AB T2N 1N4, Canada. Electronic address:

Pharmaceuticals (Basel) 2020 May 26;13(6). Epub 2020 May 26.

Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montréal, QC H2X 0A9, Canada.

Epilepsy is a serious neurological disorder affecting around 70 million people globally and is characterized by spontaneous recurrent seizures. Recent evidence indicates that dysfunction in metabolic processes can lead to the alteration of neuronal and network excitability, thereby contributing to epileptogenesis. Developing a suitable animal model that can recapitulate all the clinical phenotypes of human metabolic epilepsy (ME) is crucial yet challenging. Read More

J Hum Genet 2020 May 14. Epub 2020 May 14.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. Most of the reported cases came from Taiwan China, but patients from mainland China were seldomly reported. The current study was the largest AADCD patient cohort from mainland China. Read More

Epilepsy Behav Rep 2020 24;14:100357. Epub 2020 Mar 24.

Department of Paediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.

A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Read More

Cells 2020 Apr 25;9(5). Epub 2020 Apr 25.

Department of Anatomy and Cell Biology, College of Veterinary Medicine, and Research Institute for Veterinary Science, Seoul National University, Seoul 08826, Korea.

Pyridoxine, one of the vitamin B vitamers, plays a crucial role in amino acid metabolism and synthesis of monoamines as a cofactor. In the present study, we observed the effects of pyridoxine deficiency on novel object recognition memory. In addition, we examined the levels of 5-hydroxytryptamine (5-HT), 5-hydroxyindoleacetic acid (5-HIAA), 3,4-dihydroxyphenethylamine (DA), 3,4-dihydroxyphenylacetic acid, and homovanillic acid and the number of proliferating cells and neuroblasts in the hippocampus. Read More

Anal Biochem 2020 Apr 24:113739. Epub 2020 Apr 24.

Department of Biochemistry and Molecular Biology, New York Medical College, Valhalla, NY, 10595, USA.

α-Aminoadipic semialdehyde and its cyclic form (Δ-piperideine-6-carboxylate) accumulate in patients with α-aminoadipic semialdehyde dehydrogenase (AASADH; antiquitin; ALDH7A1) deficiency. Δ-Piperideine-6-carboxylate reacts with pyridoxal 5'-phosphate (PLP) to form a Knoevenagel condensation product, resulting in pyridoxine-dependent epilepsy. Despite dramatic clinical improvement following pyridoxine supplementation, many patients still suffer some degree of intellectual disability due to delayed diagnosis. Read More

BMC Neurosci 2020 03 24;21(1):11. Epub 2020 Mar 24.

Department of Veterinary Internal Medicine and Institute of Veterinary Science, College of Veterinary Medicine, Kangwon National University, 1 Kangwondaehak-gil, Chuncheon-si, Gangwon-do, 24341, South Korea.

Background: Pyridoxine (PDX; vitamin B), is an essential vitamin. PDX deficiency induces various symptoms, and when PDX is misused it acts as a neurotoxicant, inducing severe sensory neuropathy.

Results: To assess the possibility of creating a reversible sensory neuropathy model using dogs, 150 mg/kg of PDX was injected subcutaneously into dogs for 7 days and body weight measurements, postural reaction assessments, and electrophysiological recordings were obtained. Read More

Biochimie 2020 Jun 24;173:3-11. Epub 2020 Feb 24.

PostGraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil; Laboratory of Basic Research and Advanced Investigations in Neuroscience (BRAIN), Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduation Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address:

Classical homocystinuria (HCU) is characterized by increased plasma levels of total homocysteine (tHcy) and methionine (Met). Treatment may involve supplementation of B vitamins and essential amino acids, as well as restricted Met intake. Dysbiosis has been described in some inborn errors of metabolism, but has not been investigated in HCU. Read More

Nat Commun 2020 02 18;11(1):941. Epub 2020 Feb 18.

Department of Pharmacology, Nanjing University of Chinese Medicine, Nanjing, Jiangsu, 210023, China.

Oxidative stress is a major pathogenic mechanism in Parkinson's disease (PD). As an important cellular antioxidant, glutathione (GSH) balances the production and incorporation of free radicals to protect neurons from oxidative damage. GSH level is decreased in the brains of PD patients. Read More

Turk J Pediatr 2019 ;61(4):599-603

Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.

Gazeteci-Tekin H, Demir M, Aktan G, Tekgül H, Gökben S. The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turk J Pediatr 2019; 61: 599-603. Read More

Rocz Panstw Zakl Hig 2019 ;70(4):359-367

Pomeranian Medical University in Szczecin, Department of Human Nutrition and Metabolomics, Broniewskiego str. 24, 71-460 Szczecin, Poland

Background: Celiac disease is an autoimmune disease that affects about 1% of the European population and 0.3–1.3% of the world’s population. Read More

J Inherit Metab Dis 2020 Jan 13. Epub 2020 Jan 13.

Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.

Antiquitin (ATQ) deficiency leads to tissue, plasma, and urinary accumulation of alpha-aminoadipic semialdehyde (AASA) and its Schiff base delta-1-piperideine-6-carboxylate (P6C). Although genetic testing of ALDH7A1 is the most definitive diagnostic method, quantifications of pathognomonic metabolites are important for the diagnosis and evaluation of therapeutic and dietary interventions. Current metabolite quantification methods use laborious, technically highly complex, and expensive liquid chromatography-tandem mass spectro-metry, which is available only in selected laboratories worldwide. Read More

Case Rep Crit Care 2019 10;2019:1468704. Epub 2019 Dec 10.

Consultant Intensivist, National Hospital of Sri Lanka, Colombo, Sri Lanka.

Cerebral venous sinus thrombosis associated with acute hydrocephalus and periventricular leukoencephalopathy is a challenging combination, in a critically ill with deteriorating neurology. We report a case of a young man with acute onset neuropsychiatric manifestations, admitted to the intensive care unit. He was found to have widespread cerebral venous sinus thrombosis, hyperintensities in basal ganglia, and acute hydrocephalus in magnetic resonance imaging, necessitating cerebrospinal fluid diversion, by way of an external ventricular drain and therapeutic anticoagulation. Read More

BMC Neurol 2019 Dec 29;19(1):345. Epub 2019 Dec 29.

Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791, Bochum, Germany.

Background: Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostly in neonatal age, in early infancy or early childhood. Read More

Muscle Nerve 2020 Jul 26;62(1):13-29. Epub 2019 Dec 26.

University of Virginia, Charlottesville, Virginia.

Neuropathies associated with nutritional deficiencies are routinely encountered by the practicing neurologist. Although these neuropathies assume different patterns, most are length-dependent, sensory axonopathies. Cobalamin deficiency neuropathy is the exception, often presenting with a non-length-dependent sensory neuropathy. Read More

Biochim Biophys Acta Mol Basis Dis 2020 Mar 21;1866(3):165607. Epub 2019 Nov 21.

Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.

Pyridox(am)ine 5'-phosphate oxidase (PNPO) catalyzes oxidation of pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP) to pyridoxal 5'-phosphate (PLP), the active form of vitamin B. PNPO deficiency results in neonatal/infantile seizures and neurodevelopmental delay. To gain insight into this disorder we generated Pnpo deficient (pnpo) zebrafish (CRISPR/Cas9 gene editing). Read More

JIMD Rep 2019 Nov 30;50(1):1-8. Epub 2019 Sep 30.

Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark.

Vitamin B6-responsive epilepsies are a group of genetic disorders including deficiency, deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Recently, biallelic mutations in were shown to be a novel cause of vitamin B6-dependent epilepsy with a variable phenotype. The different vitamin B6-responsive epilepsies can be detected and distinguished by their respective biomarkers and genetic analysis. Read More

Am J Clin Nutr 2020 01;111(1):8-9

Institute of Biological Chemistry, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.

Neuropediatrics 2020 02 21;51(1):6-21. Epub 2019 Oct 21.

Department of Diagnostic Imaging, National University Health System, Singapore, Singapore.

Inherited neurotransmitter disorders are rare neurometabolic conditions which encompass genetic disorders of neurotransmitter metabolism or transport. The clinical manifestations of these rare disorders are often nonspecific, ranging from encephalopathies and seizures to movement disorders. As a consequence, neurotransmitter disorders are underrecognized and often misdiagnosed. Read More

Front Pharmacol 2019 20;10:1086. Epub 2019 Sep 20.

College of Medicine, Institute of Basic Medical Science, National Cheng Kung University, Tainan, Taiwan.

Neonatal epileptic encephalopathy (NEE), as a result of pyridoxine 5'-phosphate oxidase (PNPO) deficiency, is a rare neural disorder characterized by intractable seizures and usually leads to early infant death. The clinical phenotypes do not respond to antiepileptic drugs but are alleviated in most cases by giving large doses of pyridoxal 5'-phosphate (PLP). PLP is the active form of vitamin B6 participating in more than 100 enzymatic pathways. Read More

Pediatr Neurol 2019 12 29;101:83-85. Epub 2019 Jul 29.

Weill Cornell Medical College, New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York; Department of Healthcare Policy & Research, Weill Cornell Medicine, New York, New York; NewYork-Presbyterian Hospital, New York, New York. Electronic address:

Rev Neurol 2019 10;69(7):303-304

Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER). ISCIII, Madrid, Espana.

Am J Clin Nutr 2020 01;111(1):178-186

Department of Clinical Science, University of Bergen, Bergen, Norway.

Background: Vitamin B-6 status is routinely measured as pyridoxal 5'-phosphate (PLP) in plasma. Low concentrations of PLP are associated with rheumatic, cardiovascular, and neoplastic diseases. We have previously shown that vitamin B-6 status affects the kynurenine (Kyn) pathway of tryptophan (Trp) catabolism. Read More

Plant J 2020 01 3;101(2):442-454. Epub 2019 Nov 3.

Horticultural Sciences Department, University of Florida, Gainesville, Florida, 32611, USA.

The B vitamins provide essential co-factors for central metabolism in all organisms. In plants, B vitamins have surprising emerging roles in development, stress tolerance and pathogen resistance. Hence, there is a paramount interest in understanding the regulation of vitamin biosynthesis as well as the consequences of vitamin deficiency in crop species. Read More

CNS Neurosci Ther 2020 Jan 6;26(1):5-13. Epub 2019 Sep 6.

Neuroscience Research Group (NEUROS), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.

Background: Neurotropic B vitamins play crucial roles as coenzymes and beyond in the nervous system. Particularly vitamin B1 (thiamine), B6 (pyridoxine), and B12 (cobalamin) contribute essentially to the maintenance of a healthy nervous system. Their importance is highlighted by many neurological diseases related to deficiencies in one or more of these vitamins, but they can improve certain neurological conditions even without a (proven) deficiency. Read More

Neuroscience 2019 10 2;418:291-310. Epub 2019 Sep 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Genetic diagnosis of childhood epilepsy is crucial to provide disease-specific treatments. This report describes the genetic landscape of childhood epilepsy revealed by targeted next-generation sequencing panels for epilepsy (TNGSP-E) and whole exome sequencing (WES). In this retrospective cohort study, TNGSP-E and/or WES were applied to identify underlying genetic diagnoses in children seen in a single Pediatric Epilepsy Genetics Clinic. Read More

Am J Hum Genet 2019 09 15;105(3):534-548. Epub 2019 Aug 15.

On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address:

Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations. In-depth metabolic studies in individual 1 showed low plasma serine, hypercitrullinemia, hyperlactatemia, and hyperammonemia. Read More

Int J Hematol 2019 Nov 12;110(5):543-549. Epub 2019 Aug 12.

Department of Hematology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

Vitamin B6 (VB6) deficiency contributes to oncogenesis and tumor progression in certain cancers, and is prevalent in cancer patients in general. VB6 is also an essential element of heme synthesis, and deficiency can lead to anemia. Primary myelofibrosis (PMF) and secondary myelofibrosis (sMF) are myeloproliferative neoplasms often presenting with anemia along with other cytopenias. Read More

J Child Neurol 2019 12 9;34(14):937-943. Epub 2019 Aug 9.

Department of Pediatrics, University Hospital, Modena, Italy.

In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with gene mutation, there are only a few reports on electroencephalogram (EEG) ictal/interictal patterns, and data regarding the outcomes are inconsistent. Read More

BMJ Case Rep 2019 Aug 2;12(8). Epub 2019 Aug 2.

Department of Internal Medicine, School of Medicine, University of Florida, Gainesville, Florida, USA.

A 39-year-old woman with a history of Roux-en-Y gastric bypass (RYGB) surgery and alcohol use presented with a confluent erythematous rash involving the perineum spreading outward to the abdomen, thighs and lower back. She had angular cheilitis and glossitis. The rash was painful and blistering in scattered areas. Read More

ASN Neuro 2019 Jan-Dec;11:1759091419865788

1 Sanders-Brown Center on Aging, University of Kentucky, Lexington KY, USA.

Expert Rev Neurother 2019 11 29;19(11):1135-1147. Epub 2019 Jul 29.

Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome , Roma , Italy.

: Vitamin B6 dependent epilepsies are a group of treatable diseases ( deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5-phosphate. : A critical review was conducted on the therapeutic management of all the reported patients with genetically confirmed diagnoses of diseases affecting vitamin B6 metabolism and presenting with pyridoxine or pyridoxal-5-phosphate dependent-seizures. Data about safety and efficacy were analyzed as well as the management of supplementation with pyridoxine or pyridoxal-5-phosphate both in the acute phases and in the maintenance therapies. Read More

J Inherit Metab Dis 2019 09 10;42(5):831-838. Epub 2019 Jul 10.

Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase (CBS) gene. The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p. Read More

J Inherit Metab Dis 2020 Jan 17;43(1):2-13. Epub 2019 Jul 17.

UCL Great Ormond Street Institute of Child Health, London, UK.

Inborn errors of metabolism cause disease because of accumulation of a metabolite before the blocked step or deficiency of an essential metabolite downstream of the block. Treatments can be directed at reducing the levels of a toxic metabolite or correcting a metabolite deficiency. Many disorders have been treated successfully first in a single patient because we can measure the metabolites and adjust treatment to get them as close as possible to the normal range. Read More

Nutr Clin Pract 2019 Aug 29;34(4):490-503. Epub 2019 May 29.

Mayo Clinic, Scottsdale, Arizona, USA.

Micronutrient deficiencies (MNDs) commonly lead to cutaneous abnormalities involving the skin, hair, and nails, and these cutaneous manifestations often provide clues to the existence of the underlying deficiency. MNDs may be present in at-risk individuals who have impaired absorption or poor dietary intake. The micronutrients that most commonly present with cutaneous findings include the B vitamins riboflavin, niacin, pyridoxine, biotin, and vitamin B12; vitamin C; the fat-soluble vitamins A, E, and K; the minerals zinc, iron, copper, and selenium; and essential fatty acids. Read More

Rev Med Interne 2019 Jul 25;40(7):462-465. Epub 2019 May 25.

Service de médecine interne et immunologie clinique, université de Rennes 1, CHU de Rennes, 35000 Rennes, France.

Introduction: Sideroblastic anemia is a rare cause of microcytic anemia, which is characterized by ring sideroblasts on bone marrow aspirate. This anemia can be congenital or acquired.

Case Report: We report the case of an alcoholic 49-year-old man who presented with a severe microcytic sideroblastic anemia related to pyridoxine (B6 vitamin) deficiency. Read More

J Formos Med Assoc 2020 Apr 8;119(4):774-780. Epub 2019 May 8.

Graduate Institute of Clinical Dentistry, School of Dentistry, National Taiwan University, Taipei, Taiwan; Department of Dentistry, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

Atrophic glossitis (AG) is characterized by the partial or complete absence of filiform papillae on the dorsal surface of the tongue. AG may reflect the significant deficiencies of some major nutrients including riboflavin, niacin, pyridoxine, vitamin B12, folic acid, iron, zinc, and vitamin E. Moreover, protein-calorie malnutrition, candidiasis, Helicobacter pylori colonization, xerostomia, and diabetes mellitus are also the etiologies of AG. Read More

Wiad Lek 2019 ;72(4):532-538

National Pirogov Memorial Medical University, Vinnytsia, Ukraine.

Objective: Introduction: According to present knowledge, hyperhomocysteinemia is one of the risk factors of cardio-vascular pathology. Patients with chronic kidney disease are known to develop hyperhomocysteinemia more often than those in general population. Іmportant cause of hyperhomocysteinemia is the deficiency of vitamins В6, В9 and В12 that are involved in homocysteine metabolism. Read More

J Nutr 2019 05;149(5):770-775

Department of Clinical Science.

Background: A frequent observation in inflammatory conditions, including rheumatoid arthritis (RA), is low circulating amounts of pyridoxal 5'-phosphate (PLP), the metabolically active form of vitamin B-6. Recently, a functional marker of vitamin B-6 status, the ratio of 3-hydroxykynurenine (HK): xanthurenic acid (XA) in plasma (HK: XA), was proposed.

Objective: We investigated vitamin B-6 status in patients with RA before and after established treatment with TNFα inhibitors. Read More

Heart Surg Forum 2019 02 25;22(2):E082-E087. Epub 2019 Feb 25.

Cardiovascular Surgery Department, Medicine Faculty, Bozok University, Yozgat, Turkey.

Objective: In this study, we investigated whether the addition of vitamin B complex to prime solution for cardiopulmonary bypass (CPB) in cobalamin-deficient patients undergoing on-pump coronary artery bypass grafting (CABG) helps prevent the development of postoperative delirium (POD).

Materials And Methods: In the present study, 69 of 138 patients with serum vitamin B12 levels <200 pg/mL based on the blood sample taken within 1 week prior to on-pump CABG between January 2013 and December 2017 were enrolled. The control group included 69 patients. Read More

Brain Dev 2019 Sep 15;41(8):721-725. Epub 2019 Apr 15.

Division of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Japan.

Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyridoxine-responsive seizures. Read More

Mol Genet Metab 2019 05 27;127(1):12-22. Epub 2019 Mar 27.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address:

Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. Symptoms, including hypotonia and movement disorders (especially oculogyric crisis and dystonia) as well as autonomic dysfunction and behavioral disorders, vary extensively and typically emerge in the first months of life. However, diagnosis is difficult, requiring analysis of metabolites in cerebrospinal fluid, assessment of plasma AADC activity, and/or DNA sequence analysis, and is frequently delayed for years. Read More

J Inherit Metab Dis 2019 07 2;42(4):655-672. Epub 2019 May 2.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

Cerebral folate deficiency is typically defined as a deficiency of the major folate species 5-methyltetrahydrofolate in the cerebrospinal fluid (CSF) in the presence of normal peripheral total folate levels. However, it should be noted that cerebral folate deficiency is also often used to describe conditions where CSF 5-MTHF is low, in the presence of low or undefined peripheral folate levels. Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders. Read More

J Inherit Metab Dis 2019 05 11;42(3):424-437. Epub 2019 Apr 11.

Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado.

Study Objective: A phase 1/2 clinical trial was performed in individuals with cystathionine β synthase (CBS) deficient homocystinuria with aims to: (a) assess pharmacokinetics and safety of taurine therapy, (b) evaluate oxidative stress, inflammation, and vascular function in CBS deficiency, and (c) evaluate the impact of short-term taurine treatment.

Methods: Individuals with pyridoxine-nonresponsive CBS deficiency with homocysteine >50 μM, without inflammatory disorder or on antioxidant therapy were enrolled. Biomarkers of oxidative stress and inflammation, endothelial function (brachial artery flow-mediated dilation [FMD]), and disease-related metabolites obtained at baseline were compared to normal values. Read More

Epilepsy Res 2019 05 4;152:18-30. Epub 2019 Mar 4.

Division of Clinical and Experimental Pharmacology, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy; Clinical Trial Center, IRCCS Mondino Foundation, Pavia, Italy.

The last decade saw impressive advances not only in the discovery of gene mutations causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical manifestations of the disease. Increasing evidence is emerging that understanding these mechanisms is relevant for selection of the most appropriate treatment in the affected individual(s). The present article discusses the therapeutic implications of epilepsy-causing variants affecting a broad range of targets, from ion channels to genes controlling cellular metabolism and cell signaling pathways. Read More

Diagnostics (Basel) 2019 Mar 6;9(1). Epub 2019 Mar 6.

Department of Neurology, Mains University Hospital, Langenbeckstr 1, 55131 Mainz, Germany.

Background: Vascular diseases are multifactorial and several risk factors may have synergetic effect on the global vascular risk. Among patients with diabetes, we investigated whether vitamin B6 species differ according to global cardiovascular risk.

Methods: The present observational study included 122 patients with type 2 diabetes (mean (SD) age = 69. Read More

J Nutr Sci Vitaminol (Tokyo) 2019 ;65(1):94-101

The United Graduate School of Agricultural Science, Gifu University.

Despite previous studies suggesting that choline and betaine ameliorate lipid accumulation in rat livers, the relative effectiveness of the two nutrients is unclear. We examined the efficacy of dietary supplementation with choline or betaine in ameliorating lipid accumulation induced by vitamin B (B) deficiency in the rat liver. Male Wistar rats were fed control, B-deficient, choline-supplemented B-deficient, betaine-supplemented B-deficient, or both choline and betaine-supplemented B-deficient diets (all containing 9 g of l-methionine (Met)/kg) for 35 d. Read More

MedEdPORTAL 2018 09 21;14:10753. Epub 2018 Sep 21.

Pediatric Emergency Medicine Fellow, Department of Emergency Medicine, State University of New York Upstate Medical University.

Introduction: Treatment of seizures in the neonatal patient is urgent and time sensitive. Effective and timely treatment of this life-threatening condition is vital in preventing mortality and long-term morbidity. This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-dependent epilepsy. Read More