3,357 results match your criteria Pyridoxine Deficiency

Link between methyl nutrients and the DNA methylation process in the course of selected diseases in adults.

Rocz Panstw Zakl Hig 2021 ;72(2):123-136

Department of Dietetics, Wroclaw Medical University, Wroclaw, Poland.

DNA methylation is a reversible epigenetic modification that plays a crucial role in transcriptional gene silencing. Both excessive (hypermethylation) and reduced DNA methylation (hypomethylation) can contribute to the disturbance of the proper course of many important processes in the human body. The aim of the study was to discuss the relationship between methyl nutrients and the DNA methylation process in the course of selected diseases in adults. Read More

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January 2021

Vitamin B deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.

Bone 2021 May 14;150:116007. Epub 2021 May 14.

Division of Pediatric Endocrinology, St. Louis Children's Hospital at Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

Pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B (B), is elevated in the plasma of individuals with hypophosphatasia (HPP). HPP is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of ALPL, the gene that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). PLP accumulates extracellularly in HPP because it is a natural substrate of this cell-surface phosphomonoester phosphohydrolase. Read More

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Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.

BMC Ophthalmol 2021 May 13;21(1):212. Epub 2021 May 13.

SUNY College of Optometry, New York, NY, USA.

Background: Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications.

Case Presentation: The present study reports the case of a teenager with recurrent lens dislocation and glaucoma. He was diagnosed with CBS deficiency according to a high level of serum homocysteine and compound heterozygous mutations at two different positions on the CBS gene. Read More

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Complexities of pyridoxine response in PNPO deficiency.

Epilepsy Behav Rep 2021 3;16:100443. Epub 2021 Apr 3.

Pediatric Neurology, Department of Pediatrics, Kalawati Saran Children's Hospital, Delhi, India.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Read More

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Isolated Pyridoxine Deficiency Presenting as Muscle Spasms in a Patient With Type 2 Diabetes: A Case Report and Literature Review.

Am J Med Sci 2020 Oct 31. Epub 2020 Oct 31.

College of Medicine, Central Michigan University, Mount Pleasant, MI, USA; MidMichigan Health, Midland, MI, USA.

Pyridoxine is an important co-factor for many biochemical reactions in cellular metabolism related to the synthesis and catabolism of amino acids, fatty acids, neurotransmitters. Deficiency of pyridoxine results in impaired transcellular signaling between neurons and presents with muscular convulsions, hyperirritability, and peripheral neuropathy. Deficiency of pyridoxine is usually found in association with other vitamin B deficiencies such as folate (vitamin B9) and cobalamin (vitamin B12). Read More

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October 2020

Vitamins in Human and Donkey Milk: Functional and Nutritional Role.

Nutrients 2021 Apr 29;13(5). Epub 2021 Apr 29.

School of Pharmacy, University of Camerino, 62032 Camerino, Italy.

Background: Whole milk is a good source of all the nutrients, and it also contains a sufficient number of vitamins to permit regular the growth of the neonate. Dairy cow milk can create allergy in infants less than 12 months old because of the high caseins and β-lactoglobulin content. In these circumstances, donkey milk can represent a good replacement for dairy cows' milk in children affected by Cow Milk Protein Allergy (CMPA) because of its close chemical composition with human milk, mainly due to its low protein and low mineral content. Read More

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Concurrent zinc and vitamin B deficiencies in acutely exacerbated inflammatory bowel disease: Case reports.

Nutr Clin Pract 2021 Apr 30. Epub 2021 Apr 30.

Division of Gastroenterology and Hepatology, University of Florida College of Medicine, Gainesville, Florida, USA.

Background: Limited evidence is available to describe the prevalence, causes, and consequences of zinc and vitamin B deficiencies in those with acutely exacerbated inflammatory bowel disease (IBD). Zinc is important for immune function and wound healing, and B is needed for metabolic and neurological function. Patients with IBD are at risk of micronutrient deficiencies, particularly during flares. Read More

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Vitamin B-6-Induced Neuropathy: Exploring the Mechanisms of Pyridoxine Toxicity.

Adv Nutr 2021 Apr 29. Epub 2021 Apr 29.

University College Venlo, Campus Venlo, Maastricht University, Maastricht, The Netherlands.

Vitamin B-6 in the form of pyridoxine (PN) is commonly used by the general population. The use of PN-containing supplements has gained lots of attention over the past years as they have been related to the development of peripheral neuropathy. In light of this, the number of reported cases of adverse health effects due to the use of vitamin B-6 have increased. Read More

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Classical homocystinuria, is it safe to exercise?

Mol Genet Metab Rep 2021 Jun 26;27:100746. Epub 2021 Mar 26.

Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Background Cystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocysteine (tHcy) raising the possibility that exercise might be detrimental in CBS deficiency. Our main objective was to determine plasma tHcy kinetics in response to physical exercise in homocystinuria patients. Read More

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Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With Deficiency.

Front Genet 2021 1;12:644447. Epub 2021 Apr 1.

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

Objective: To describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype-phenotype relationship.

Methods: Clinical and genetics data of 12 patients were collected.

Results: Family 1-3 presented with symptoms in the neonatal period, while family 4-6 presented during early infancy. Read More

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Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

Endocr Metab Immune Disord Drug Targets 2021 Apr 14. Epub 2021 Apr 14.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran. Iran.

Background: In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction.

Case Presentation: Herein, a 10-month-old girl is presented with severe hypotonia along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine; therefore the diagnosis of 2-Ketoglutarate dehydrogenase complex (KDHC) deficiency was made for this patient. Read More

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High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency.

Brain Dev 2021 Jun 3;43(6):680-687. Epub 2021 Apr 3.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.

Objective: We aimed to assess the efficacy and safety of high-dose pyridoxine treatment for seizures and its effects on development in patients with inherited glycosylphosphatidylinositol deficiencies (IGDs).

Methods: In this prospective open-label multicenter pilot study, we enrolled patients diagnosed with IGDs using flow cytometry and/or genetic tests. The patients received oral pyridoxine (20-30 mg/kg/day) for 1 year, in addition to previous treatment. Read More

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Plasma B Vitamers: Population Epidemiology and Parent-Child Concordance in Children and Adults.

Nutrients 2021 Mar 2;13(3). Epub 2021 Mar 2.

The Liggins Institute, The University of Auckland, Auckland 1023, New Zealand.

Scope: B vitamers are co-enzymes involved in key physiological processes including energy production, one-carbon, and macronutrient metabolism. Studies profiling B vitamers simultaneously in parent-child dyads are scarce. Profiling B vitamers in parent-child dyads enables an insightful determination of gene-environment contributions to their circulating concentrations. Read More

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Child Neurology: Late-Onset Vitamin B-Dependent Epilepsy Identified by Rapid Genome Sequencing.

Neurology 2021 05 25;96(19):911-914. Epub 2021 Mar 25.

From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX.

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West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.

Front Pediatr 2021 5;9:621200. Epub 2021 Mar 5.

Service de neuropédiatrie, CHU d'Angers, Angers, France.

To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as West syndrome, i. e., West syndrome that starts after the age of 2 months without other types of seizures (focal seizures for instance) before the onset of epileptic spasms. Read More

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The role of B vitamins in stroke prevention.

Crit Rev Food Sci Nutr 2021 Mar 16:1-14. Epub 2021 Mar 16.

Faculty of Medicine, Ovidius University of Constanta, Constanta, Romania.

Elevated plasma levels of homocysteine (Hcy) are a recognized risk factor for stroke. This relationship represents one aspect of the debated `Hcy hypothesis'. Elevated Hcy may be an independent and treatable cause of atherosclerosis and thrombotic vascular diseases. Read More

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The Role of Vitamin B6 in Women's Health.

Amy S D Lee

Nurs Clin North Am 2021 03 29;56(1):23-32. Epub 2020 Dec 29.

Capstone College of Nursing, University of Alabama, 650 University Boulevard East, Tuscaloosa, AL 35401, USA. Electronic address:

Vitamin B6, a cofactor in many biochemical reactions in the cells of living organisms, is an essential coenzyme for various catabolic and anabolic processes. Although vitamin B6 deficiency in young healthy women with a balanced diet is thought to be unusual, it can be seen with certain medications, health conditions, and dietary deficits, as well as aging. Vitamin B6 deficiency is associated with a variety of ill health effects, and correction of deficiency is considered beneficial. Read More

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Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.

CEN Case Rep 2021 Jan 27. Epub 2021 Jan 27.

Department of Critical Care Medicine, Children's National Hospital, 111 Michigan Avenue, Washington, DC, 20010, USA.

Molybdenum cofactor is essential for the activity of multiple enzymes including xanthine dehydrogenase. Molybdenum cofactor deficiencies are rare inborn errors of metabolism. Clinically, they present with intractable seizures, axial hypotonia, and hyperekplexia. Read More

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January 2021

Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.

Biochimie 2021 Apr 6;183:18-29. Epub 2021 Jan 6.

Department of Medicinal Chemistry, School of Pharmacy, Virginia Commonwealth University, Richmond, VA, 23298, USA; Institute for Structural Biology, Drug Discovery, and Development, School of Pharmacy, Virginia Commonwealth University, Richmond, VA, 23298, USA. Electronic address:

Pyridoxal 5'-phosphate (PLP), the active cofactor form of vitamin B6 is required by over 160 PLP-dependent (vitamin B6) enzymes serving diverse biological roles, such as carbohydrates, amino acids, hemes, and neurotransmitters metabolism. Three key enzymes, pyridoxal kinase (PL kinase), pyridoxine 5'-phosphate oxidase (PNPO), and phosphatases metabolize and supply PLP to PLP-dependent enzymes through the salvage pathway. In born errors in the salvage enzymes are known to cause inadequate levels of PLP in the cell, particularly in neuronal cells. Read More

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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Epilepsia 2021 02 7;62(2):e35-e41. Epub 2021 Jan 7.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency. Previous studies described seven patients with biallelic variants in the PIGS gene, of whom two presented with fetal akinesia and five with global developmental delay and epileptic developmental encephalopathy. We present the molecular and clinical characteristics of six additional individuals from five families with unreported variants in PIGS. Read More

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February 2021

BCG lymphadenitis: a potential complication of immune reconstitution following haematopoietic stem cell transplant.

Arch Dis Child Educ Pract Ed 2020 Dec 18. Epub 2020 Dec 18.

Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.

Case reportAn MHC class II deficient 2-year-old boy presented with fever and an enlarging left neck mass 100 days post allogeneic haematopoietic stem cell transplant (HSCT). Fever persisted despite treatment with broad-spectrum β-lactam antibiotics. His BCG vaccination site at presentation was quiescent. Read More

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December 2020

Global Concerns with B Vitamin Statuses: Biofortification, Fortification, Hidden Hunger, Interactions, and Toxicity.

Compr Rev Food Sci Food Saf 2019 Nov 11;18(6):1968-1984. Epub 2019 Sep 11.

Dept. of Nutritional Sciences, Univ. of Wisconsin-Madison, Madison, WI, 53706, U.S.A.

The prevalence of undernutrition due to insufficient energy intake has been reduced by nearly 50% since 1990. This reduction is largely attributed to improved yields of staple crops, such as wheat, rice, and maize; however, these improvements did little for micronutrient deficiencies that affect an estimated two billion people worldwide. Starchy staple crops are energy dense but are often lacking in one or more B vitamins, making resource-constrained people who consume monotonous diets comprised predominantly of these staples at risk for developing deficiency. Read More

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November 2019

Effects of Dietary Vitamin B6 Restriction on Hepatic Gene Expression Profile of Non-Obese and Obese Mice.

Nutrients 2020 Dec 14;12(12). Epub 2020 Dec 14.

Department of Food and Nutrition, Seoul National University, Seoul 08826, Korea.

Although vitamin B6 is contained in various foods, its deficiency is one of the most common micronutrient deficiencies worldwide. Furthermore, patients with obesity and cardiovascular disease are more likely to have suboptimal vitamin B6 status than healthy people. Therefore, we investigated the effects of dietary vitamin B6 restriction on hepatic gene expression and function in obese mice. Read More

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December 2020

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

J Inherit Metab Dis 2021 May 28;44(3):677-692. Epub 2020 Dec 28.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). Read More

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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

J Inherit Metab Dis 2021 Jan 1;44(1):178-192. Epub 2020 Dec 1.

Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. Read More

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January 2021

Inherited Disorders of Lysine Metabolism: A Review.

J Nutr 2020 10;150(Suppl 1):2556S-2560S

Reference Center for Inborn Errors of Metabolism, Necker University Hospital, Assistance-Publique Hôpitaux de Paris, University of Paris, Medical School Paris-Descartes, Paris, France.

Lysine is an essential amino acid, and inherited diseases of its metabolism therefore represent defects of lysine catabolism. Although some of these enzyme defects are not well described yet, glutaric aciduria type I (GA1) and antiquitin (2-aminoadipic-6-semialdehyde dehydrogenase) deficiency represent the most well-characterized diseases. GA1 is an autosomal recessive disorder due to a deficiency of glutaryl-CoA dehydrogenase. Read More

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October 2020

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.

Pediatr Neurol 2020 12 2;113:33-41. Epub 2020 Sep 2.

Department of Child Neurology, Okayama University Hospital, Okayama, Japan; Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

Background: We aimed to demonstrate the biochemical characteristics of vitamin B6-dependent epilepsy, with a particular focus on pyridoxal 5'-phosphate and pyridoxal in the cerebrospinal fluid.

Methods: Using our laboratory database, we identified patients with vitamin B6-dependent epilepsy and extracted their data on the concentrations of pyridoxal 5'-phosphate, pyridoxal, pipecolic acid, α-aminoadipic semialdehyde, and monoamine neurotransmitters. We compared the biochemical characteristics of these patients with those of other epilepsy patients with low pyridoxal 5'-phosphate concentrations. Read More

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December 2020

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.

Hum Mol Genet 2020 11;29(19):3266-3284

Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway. PDE is characterized by recurrent seizures that are resistant to conventional anticonvulsant treatment but are well-controlled by pyridoxine (PN). Most PDE patients also suffer from neurodevelopmental deficits despite adequate seizure control with PN. Read More

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November 2020

Associations between dietary intake of B-vitamins and psychological disorders among Iranian women: a cross-sectional study.

Public Health Nutr 2021 May 16;24(7):1787-1797. Epub 2020 Sep 16.

Department of Community Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences, PO Box 1416643931, Tehran, Iran.

Objective: B-vitamins affect brain function through multiple pathways. Given limited evidence on the relationship between dietary intake of these vitamins and psychological disorders, we examined dietary intake of vitamin B6-9-12 in relation to psychological disorders among Iranian women.

Design: Cross-sectional study. Read More

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Vitamin B6, Inflammation, and Cardiovascular Outcome in a Population-Based Cohort: The Prevention of Renal and Vascular End-Stage Disease (PREVEND) Study.

Nutrients 2020 Sep 4;12(9). Epub 2020 Sep 4.

Department of Internal Medicine, University of Groningen, University Medical Center Groningen, 9700RB Groningen, The Netherlands.

Background: a large number of studies have linked vitamin B6 to inflammation and cardiovascular disease in the general population. However, it remains uncertain whether vitamin B6 is associated with cardiovascular outcome independent of inflammation.

Methods: we measured plasma pyridoxal 5'-phosphate (PLP), as an indicator of vitamin B6 status, at baseline in a population-based prospective cohort of 6249 participants of the Prevention of Renal and Vascular End-stage Disease (PREVEND) study who were free of cardiovascular disease. Read More

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September 2020