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J Nutr Biochem 2018 Dec 4;65:26-34. Epub 2018 Dec 4.

Department of Biofunctional Science and Technology, Graduate School of Biosphere Science, Hiroshima University, Higashi-Hiroshima, Hiroshima, Japan; Division of Food Science and Biofunctions, Graduate School of Biosphere Science, Hiroshima University, Higashi-Hiroshima, Hiroshima, Japan.

Vitamin B deficiency is associated with cardiovascular disease (CVD). Although plasma biomarkers have been proposed, no studies have yet directly profiled heart tissue, and the mechanisms have to be fully defined. Thus, in order to provide better insight into vitamin B-deficient effects on cardiac functions, we sought to identify the metabolic profile in heart tissue consequent to change in dietary vitamin B levels by applying metabolomics. Read More

Mutat Res 2019 Jan 11;837:42-47. Epub 2018 Oct 11.

Divison of Gastroenterology, Department of Internal Medicine, Gachon University, Gil Medical Center, Incheon, South Korea.

Vitamin B deficiency in patients with inflammatory bowel disease (IBD) is well-documented; however, few studies have explored genomic damage in patients with IBD using the cytokinesis-block micronucleus cytome (CBMN-Cyt) assay. This study investigated the frequency of micronuclei (MNi) using the CBMN-Cyt assay and the level of vitamin B in patients with IBD. This prospective study was conducted in 15 patients with ulcerative colitis, 15 patients with Crohn's disease, and 30 healthy controls from one tertiary hospital. Read More

Biochem Med (Zagreb) 2018 Oct;28(3):030801

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. Read More

Case Rep Nephrol Dial 2018 Sep-Dec;8(3):223-229. Epub 2018 Oct 4.

Lehigh Valley Health Network, Allentown, Pennsylvania, USA.

Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs.

Case Presentation: A Syrian woman with a history of nephrolithiasis and heterozygosity for factor V Leiden and prothrombin gene mutations presented with postpartum renal failure. Read More

Am J Hum Genet 2018 Oct 27;103(4):602-611. Epub 2018 Sep 27.

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address:

Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes consisting of seizures, dysmorphic features, multiple congenital malformations, and severe intellectual disability. We present a study of six individuals from three unrelated families in which WES or WGS identified bi-allelic phosphatidylinositol glycan class S (PIGS) biosynthesis mutations. Read More

Psychiatr Danub 2018 Sep;30(3):310-316

Department of Child and Adolescent Psychiatry, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey,

Background: In our study, we aimed to evaluate the serum homocysteine levels, pyridoxine, folate and vitamin B12 levels in children with attention deficit hyperactivity disorders (ADHD).

Subjects And Methods: This study included 30 newly diagnosed drug-naive children with ADHD (23 males and 7 female, mean age 9.3±1. Read More

Biochim Biophys Acta Mol Basis Dis 2018 11 26;1864(11):3629-3638. Epub 2018 Aug 26.

Department of Experimental Medicine, University of Perugia, Perugia, Italy. Electronic address:

Gyrate atrophy (GA) is a rare recessive disorder characterized by progressive blindness, chorioretinal degeneration and systemic hyperornithinemia. GA is caused by point mutations in the gene encoding ornithine δ-aminotransferase (OAT), a tetrameric pyridoxal 5'-phosphate-dependent enzyme catalysing the transamination of l-ornithine and α-ketoglutarate to glutamic-γ-semialdehyde and l-glutamate in mitochondria. More than 50 OAT variants have been identified, but their molecular and cellular properties are mostly unknown. Read More

Ned Tijdschr Geneeskd 2018 08 23;162. Epub 2018 Aug 23.

Franciscus Gasthuis en Vlietland, Klinisch Chemisch Hematologisch Laboratorium, Rotterdam.

Background: There are indications that the use of levodopa/carbidopa can cause symptomatic vitamin B6 deficiency. However, this has only been described for patients who used the product in the form of an intestinal gel.

Case Description: We are describing 3 patients who developed vitamin B6 deficiency while using levodopa/carbidopa in tablet form. Read More

Spectrochim Acta A Mol Biomol Spectrosc 2019 Jan 25;206:491-497. Epub 2018 Aug 25.

Chemistry Department, Faculty of Science, Cairo University, Giza 12613, Egypt.

Vitamin deficiency is a main cause of many disorders and diseases that cannot be treated without using dietary supplements and multivitamin medications. We present here a UV-spectrophotometric method for simultaneous assay of two of the widely used vitamins, thiamine hydrochloride (vitamin B1) and pyridoxine hydrochloride (vitamin B6). The method is based on H-point standard addition to estimate the vitamins under study in their pure solutions and multivitamin ampoules by measuring the absorption of the mixture at 283 and 298 nm allowing its application in quality control laboratories. Read More

Pediatr Nephrol 2018 Nov 21;33(11):2161-2165. Epub 2018 Aug 21.

Department of Paediatric Nephrology, Evelina London Children's Hospital, Guys & St Thomas NHS Foundation Trust, Westminster Bridge Road, SE1 7EH, London, UK.

Objectives: We investigated vitamin B6 blood concentrations in children on long-term dialysis at our centre.

Methods: Retrospective cross-sectional review of vitamin B6 blood concentrations in children on maintenance dialysis [peritoneal dialysis (PD), intermittent haemodialysis (IHD)].

Results: We reviewed 28 children (16 boys), 15 IHD and 13 PD with median (interquartile range, IQR) age of 9. Read More

J Biol Chem 2018 Sep 20;293(36):13921-13931. Epub 2018 Jul 20.

From the Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111 and

Mutations in the cystathionine β-synthase () gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Read More

BMJ Case Rep 2018 Jun 28;2018. Epub 2018 Jun 28.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism. Pyridoxine is used for isoniazid side-effects prevention, pyridoxine-dependent epilepsy treatment and cystathionine beta-synthase deficiency (homocystinuria) treatment. However, vitamin B6 hypervitaminosis is neurotoxic and may provoke a progressive sensory neuronopathy (sensory ganglionopathy), usually when daily uptake is above 50 mg. Read More

J Pediatr Neurosci 2018 Jan-Mar;13(1):13-23

Department of Pediatrics, Child Neurology and Psychiatry-Division of Pediatric Neurology-Sapienza University of Rome, Rome, Italy.

This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B-dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency. Available treatments are more effective on epileptic manifestations (with the possibility of complete seizure control) and motor symptoms, whereas the benefits on cognitive outcome are usually minor. Read More

Paediatr Int Child Health 2018 Jun 13:1-3. Epub 2018 Jun 13.

a Pediatric Tuberculosis Clinic, B. J. Wadia Hospital for Children , Mumbai , India.

Isoniazid (INH)-induced peripheral neuritis is not uncommonly reported in adults, especially those with malnutrition and alcoholism, but it is very rare in children. INH leads to peripheral neuritis by causing a deficiency in the serum level of pyridoxine which depends on the dose of INH, duration of treatment and the patient's nutritional and acetylator status. A 12-year-old girl developed tingling and numbness of the lower limbs after commencing anti-tuberculous therapy which included INH 10 mg/kg/day. Read More

Epilepsia Open 2018 Jun 14;3(2):134-166. Epub 2018 Mar 14.

Laboratory of Developmental Epilepsy Saul R. Korey Department of Neurology Montefiore/Einstein Epilepsy Center Albert Einstein College of Medicine Bronx New York U.S.A.

West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. Read More

Medicine (Baltimore) 2018 Jun;97(22):e10953

IRCCS Centro Neurolesi "Bonino-Pulejo," Via Provinciale Palermo, Contrada Casazza, Messina, Italy.

Rationale: The aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing as a consequence, their deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor.

Patient Concerns: We report the case of a Caucasian 43-year-old woman heterozygous for p.Ser250Phe in DDC, encoding for AADC with a positive family history for behavioral problems. Read More

J Coll Physicians Surg Pak 2018 Jun;28(6):488-489

Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.

Classical homocystinuria, also known as cystathionine beta synthase deficiency, is a rare disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. A young child with homocystinuria is discussed, who presented with behavioral abnormalities, involuntary movement, mental retardation, and decreased vision since birth. The diagnosis of homocystinuria was not made at initial presentation. Read More

Front Plant Sci 2018 6;9:443. Epub 2018 Apr 6.

Laboratory of Functional Plant Biology, Department of Biology, Ghent University, Ghent, Belgium.

'Hidden hunger' involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world. Many staple crops, although serving as the main dietary component for large population groups, deliver inadequate amounts of micronutrients. Read More

Eur J Paediatr Neurol 2018 Jul 30;22(4):662-666. Epub 2018 Mar 30.

Department of Pediatrics, Màxima Medical Center, Veldhoven, The Netherlands. Electronic address:

Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. Read More

Pediatrics 2018 Apr;141(Suppl 5):S430-S433

Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina.

Pyridox(am)ine-5-phosphate oxidase deficiency is an inborn error of vitamin B metabolism that is characterized by neonatal seizures, requiring lifelong therapy with pyridoxal-5-phosphate. We present the first case of a patient with pyridox(am)ine-5-phosphate oxidase deficiency and mild hemophilia A, whose bleeding symptoms were exacerbated by the vitamin B therapy essential for his epileptic disorder. This report expands the spectrum of known vitamin B toxicity and demonstrates a need for vigilance in monitoring for bleeding symptoms in patients requiring pyridoxine or pyridoxal-5-phosphate supplementation. Read More

Nutr Hosp 2018 Feb 13;35(1):59-64. Epub 2018 Feb 13.

Federal University of Bahia, Brazil.

Objective: The aim of this study was to evaluate the ingestion of micronutrients in elderly living in nursing homes.

Methods: This is a cross-sectional study, conducted with 216 individuals of both sexes, age equal or greater than 60 years, living in nursing homes for elderly in Salvador, Bahia, Brazil. Direct weighing of the food was used to get food intake, and prevalence of inadequacy was obtained using the software Multiple Source Method (MSM) and evaluated by estimated average requirement (EAR). Read More

Mol Genet Metab 2018 Dec 14;125(4):359. Epub 2018 Mar 14.

Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Università di Roma, Italy. Electronic address:

Pediatr Clin North Am 2018 04 28;65(2):279-299. Epub 2017 Dec 28.

Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Tawam Roundabout, Al-Ain 15258, United Arab Emirates. Electronic address:

Inborn errors of metabolism (IEM) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEM are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEM can present with seizures, either as the main presenting finding or as a part of a more complex phenotype. Read More

Adv Food Nutr Res 2018;83:151-194. Epub 2018 Feb 1.

School of Health Sciences, University of Northern British Columbia, Prince George, BC, Canada. Electronic address:

Vitamin B6 serves as a coenzyme catalyzing more than 150 enzymes regulating metabolism and synthesis of proteins, carbohydrates, lipids, heme, and important bioactive metabolites. For several years vitamin B6 and its vitamers (B6) were recognized as antioxidant and antiinflammatory and in modulating immunity and gene expression. During the last 10 years, there were growing reports implicating B6 in inflammation and inflammation-related chronic illnesses including cancer. Read More

Semin Fetal Neonatal Med 2018 06 31;23(3):204-212. Epub 2018 Jan 31.

Department of Pediatrics, University of California, San Francisco, CA, USA; Department of Neurology, University of California, San Francisco, CA, USA. Electronic address:

Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g. Read More

Neuropediatrics 2018 Apr 5;49(2):154-157. Epub 2018 Feb 5.

Division of Child Neurology, University Childreńs Hospital, Zurich, Switzerland.

Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c. Read More

Data Brief 2017 Dec 28;15:868-875. Epub 2017 Oct 28.

Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Università di Roma, Via dei Sabelli 108, 00141 Roma, Italy.

PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5'-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and clinical expression remain to be established. One of these mutations, Arg116Gln, is of particular interest because of its later onset of symptoms (beyond the first months of life) and its peculiar epileptic manifestations in patients. Read More

Mol Genet Genomic Med 2018 03 20;6(2):160-170. Epub 2018 Jan 20.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Background: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU.

Methods: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. Read More

Fish Shellfish Immunol 2018 Mar 12;74:459-473. Epub 2018 Jan 12.

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 aim of this study was to assess the effects of dietary pyridoxine (PN) deficiency on intestinal antioxidant capacity, cell apoptosis and intercellular tight junction in young grass carp (Ctenopharyngodon idella). A total of 540 young grass carp (231.85 ± 0. Read More

Nutr Neurosci 2018 Jan 16:1-12. Epub 2018 Jan 16.

a College of Health Sciences, Department of Biomedical & Nutritional Sciences , University of Massachusetts Lowell , Lowell , MA , USA.

Background: Low vitamin B-6 status has been linked to depressive symptomatology. We examined the longitudinal association of vitamin B-6 status with depressive symptomatology across 3-time points over ∼5-7 years in a cohort of older Hispanic adults.

Methods: We used two-level hierarchical linear regression models for continuous outcomes. Read More

J Bras Nefrol 2017 Oct-Dec;39(4):462-466

University of Antioquia, Pablo Tobón Uribe Hospital, Department of Nephrology and Renal Transplant, Medellín, Colombia.

Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). Read More

Urol J 2017 12 30:1-5. Epub 2017 Dec 30.

Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.

Purpose: This review systematically discusses and summarizes the effect of vitamin B6 on semen quality.

Material And Method: To achieve this contribution, we searched the PubMed, Scopus, and Web of Science databases for English language papers from 1984 through 2017 using the key words "sperm" versus "Vitamin B6", "pyridoxine", and "pyridoxal". Also, the references from selected published papers were included, only if relevant. Read More

J Gen Appl Microbiol 2018 Jan 29;63(6):362-368. Epub 2017 Nov 29.

Laboratory for Chemistry and Life Science, Institute of Innovative Science, Tokyo Institute of Technology.

The gene ybhA of Escherichia coli encodes a phosphatase that has an in vitro specificity to dephosphorylate pyridoxal 5'-phosphate (PLP or vitamin B), a co-factor for aminotransferases and other enzymes. In this study, we found that excess pyridoxal (PL) in a minimal medium resulted in excess PLP in vivo and growth inhibition, which was alleviated by YbhA overproduction. Conversely, the YbhA overproduction resulted in PLP shortage in vivo and the correlated reduction in growth rate, which was significantly negated by PL in the medium. Read More

Prog Transplant 2017 Sep 4;27(3):251-256. Epub 2017 Jul 4.

4 Division of Gastroenterology and Hepatology, Department of Medicine, Liver Institute, University of Arizona, Liver Institute, Tucson, AZ, USA.

Objective: Pyridoxine is 1 of 8 B vitamins that assist in a variety of essential functions including immune functions. The purpose of this study was to assess the risk factors associated with low pyridoxine levels in solid organ transplantation recipients.

Design: The study cohort was divided into 2 groups: (a) patients with normal pyridoxine levels or (b) patients with low pyridoxine levels. Read More

Handb Exp Pharmacol 2018 ;245:345-383

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

Biomed Res Int 2017 26;2017:7367831. Epub 2017 Sep 26.

Department of Nutrition, Chung Shan Medical University, Taichung 40201, Taiwan.

The purpose of this study was to investigate whether plasma pyridoxal 5'-phosphate (PLP) and homocysteine were dependent on or independent of each other in order to be associated with inflammatory markers in patients with chronic kidney disease (CKD) or those receiving hemodialysis treatment. This was a cross-sectional study. Sixty-eight stage 2-5 CKD patients and 68 hemodialysis patients had one time fasting blood drawn for measurements of plasma PLP, pyridoxal (PL), homocysteine, and several inflammatory markers. Read More

Clin Neurol Neurosurg 2017 12 23;163:90-93. Epub 2017 Oct 23.

Child Neurology and Psychiatry Unit, Spedali Civili, Brescia, Italy.

Genetics 2017 12 23;207(4):1501-1518. Epub 2017 Oct 23.

Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.

Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene 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 () displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 days postfertilization). Read More

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

Am J Clin Nutr 2017 Dec 4;106(6):1366-1374. Epub 2017 Oct 4.

Departments of Internal Medicine and.

Low plasma concentrations of pyridoxal 5'-phosphate (PLP) are common in renal transplant recipients (RTRs) and confer increased risk of long-term mortality. To our knowledge, it is not known whether low plasma PLP concentrations have functional (i.e. Read More

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

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

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 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 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 09 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

J Inherit Metab Dis 2017 11 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

J Nutr 2017 Aug 9. Epub 2017 Aug 9.

USDA Agricultural Research Service, Western Human Nutrition Research Center, Davis, CA;

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