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Int J Mol Sci 2022 May 29;23(11). Epub 2022 May 29.

Department of Biology and Biotechnology "Charles Darwin", Sapienza University, 00185 Rome, Italy.

The active form of vitamin B6, pyridoxal 5'-phosphate (PLP), is a cofactor for more than 200 enzymes involved in many metabolic pathways. Moreover, PLP has antioxidant properties and quenches the reactive oxygen species (ROS). Accordingly, PLP deficiency causes chromosome aberrations in , yeast, and human cells. Read More

Eur J Paediatr Neurol 2022 May 7;39:25-29. Epub 2022 May 7.

Department of Pediatrics & Human Genetics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

Background: A rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5'-phosphate (PLP), to maintain seizure control. Patients with PLP-responsive seizures are dependent on chronic PLP treatment, yet no licensed PLP product is available. PLP food supplements, a product category regulated less stringently than medication, may prove of insufficient effectiveness and safety. Read More

Intern Med 2022 May 14. Epub 2022 May 14.

Department of Hematology, Juntendo University School of Medicine, Japan.

Vitamin B6 (VB6) is essential to heme synthesis, and its deficiency can lead to anemia. VB6 deficiency anemia is typically microcytic, hypochromic, and sideroblastic. VB6 deficiency is a well-recognized complication of levodopa/carbidopa therapy, as metabolism of levodopa to dopamine is VB6-dependent, and carbidopa irreversibly forms bonds and deactivates VB6. Read More

Front Genet 2022 12;13:804461. Epub 2022 Apr 12.

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

To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by mutation, pyridox(am)ine-5'-phosphate oxidase () deficiency, and deficiency. We analyzed data from a cohort of 54 cases with PDE, 13 cases with deficiency, and 2 cases with deficiency and looked for the presentation of ES among them. A total of 11 patients with the seizure presentation of ES have been collected. Read More

Front Plant Sci 2022 4;13:856880. Epub 2022 Apr 4.

Plant Biotechnology, Department of Biology, ETH Zurich, Zurich, Switzerland.

Insufficient dietary intake of micronutrients contributes to the onset of deficiencies termed hidden hunger-a global health problem affecting approximately 2 billion people. Vitamin B (thiamine) and vitamin B (pyridoxine) are essential micronutrients because of their roles as enzymatic cofactors in all organisms. Metabolic engineering attempts to biofortify rice endosperm-a poor source of several micronutrients leading to deficiencies when consumed monotonously-have led to only minimal improvements in vitamin B and B contents. Read More

Hematology 2022 Dec;27(1):463-468

Department of Hematology, Juntendo University School of Medicine, Tokyo, Japan.

Background: The etiology of POEMS syndrome and its associated polyneuropathy have not been fully elucidated. The clinical picture of POEMS-associated polyneuropathy and nutritional polyneuropathy due to vitamin B6 (VB6) deficiency are strikingly similar, both being typically sensorimotor, symmetrical, stocking and glove distribution, and more severe in the lower extremities.

Case Presentation: We report two consecutive POEMS patients with VB6 deficiency who showed unusual rapid and drastic recovery of polyneuropathies within 6-8 weeks after oral VB6 supplementation. Read More

Public Health Nutr 2022 Apr 8:1-27. Epub 2022 Apr 8.

School of Nutrition and Dietetics, University of Antioquia (Universidad de Antioquia), Colombia.

Objective: To validate a Food Diversity Questionnaire that identifies the prevalence of the risk of deficiency in the intake of 11 micronutrients.

Design: The Food Diversity Questionnaire paper form, an online application for data entry and handling, was designed and compared with the 24-hour recall as a reference method. All data were processed in PC-SIDE v1 software. Read More

Clin Nutr 2022 06 26;41(6):1357-1424. Epub 2022 Feb 26.

Departamento de Medicina, Universidad Complutense de Madrid, Nutrition Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Electronic address:

Background: Trace elements and vitamins, named together micronutrients (MNs), are essential for human metabolism. Recent research has shown the importance of MNs in common pathologies, with significant deficiencies impacting the outcome.

Objective: This guideline aims to provide information for daily clinical nutrition practice regarding assessment of MN status, monitoring, and prescription. Read More

Rev Prat 2022 Feb;72(2):168-175

AP-HP, département de gastroentérologie, IBD and Intestinal Failure, hôpital Beaujon, Clichy, France.Université de Paris, Paris, France AP-HP, service des explorations fonctionnelles, centre spécialisé obésité, hôpital Louis-Mourier, Colombes, France. Inserm, UMRS 1149, centre de recherche sur l'inflammation Paris Montmartre, Paris, France.

NUTRITIONNAL COMPLICATIONS AND PATIENTS FOLLOW-UP AFTER BARIATRIC SURGERYBariatric surgery is the most consistently effective method for sustained weight reduction and can result in a substantial improvement in overall survival in patients with severe obesity. Complex mechanisms underlying metabolic benefits could also drive preventable, but potentially life-threatening, long-term nutritional complications. Consequently, physicians should be familiar with the lifelong monitoring of patients after bariatric surgery and the potential long-term complications in this paradoxical situation where the long-awaited weight loss can lead to severe nutritional complications. Read More

Mol Genet Metab 2022 04 17;135(4):350-356. Epub 2022 Feb 17.

Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; On behalf of United for Metabolic Diseases, the Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment. Adjunct lysine reduction therapies (LRT), aimed at lowering putative neurotoxic metabolites, are associated with improved cognitive outcomes. However, possibly due to timing of treatment, not all patients have normal intellectual function. Read More

Microorganisms 2022 Feb 19;10(2). Epub 2022 Feb 19.

Biotechnology Department, Mendeleev University of Chemical Technology, 125047 Moscow, Russia.

The health benefits of probiotics are beyond doubt. The positive effects of lactobacilli and bifidobacteria on the function of many body systems have been repeatedly proven by various studies. To completely realize the potential of probiotic microorganisms, the strains should be tested by the greatest combination of characteristics that contribute to the wellness of the host. Read More

Cureus 2022 Jan 4;14(1):e20930. Epub 2022 Jan 4.

Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.

An 11-year-old boy with marfanoid habitus and high myopia presented with multiple episodes of seizures. He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. Genetic evaluation unveiled homocystinuria due to cystathionine beta-synthase deficiency. Read More

J Bacteriol 2022 03 31;204(3):e0060721. Epub 2022 Jan 31.

Department of Microbiology, University of Georgiagrid.213876.9, Athens, Georgia, USA.

Pyridoxal 5'-phosphate (PLP) is an essential cofactor for organisms in all three domains of life. Despite the central role of PLP, many aspects of vitamin B metabolism, including its integration with other biological pathways, are not fully understood. In this study, we examined the metabolic perturbations caused by the vitamin B antagonist 4-deoxypyridoxine (dPN) in a mutant of Salmonella enterica serovar Typhimurium LT2. Read More

Dev Med Child Neurol 2022 06 26;64(6):789-798. Epub 2022 Jan 26.

Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.

Aim: To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy.

Method: Participants with genetically confirmed GPI deficiency were treated with oral pyridoxine or P5P as compassionate use in an agreed-upon clinical regimen. Pyridoxine (20-30 mg/kg/day) was used for 3 months. Read More

Brain Sci 2021 Dec 31;12(1). Epub 2021 Dec 31.

Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.

Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in gene), more commonly known as antiquitin (ATQ). ATQ is one of the enzymes involved in lysine oxidation; thus, its deficiency leads to the accumulation of toxic metabolites in body fluids. PDE is characterized by persistent, recurrent neonatal seizures that cannot be well controlled by antiepileptic drugs but are responsive clinically and electrographically to daily pyridoxine (vitamin B6) supplementation. Read More

J Neurochem 2022 Apr 23;161(1):20-39. Epub 2022 Feb 23.

Istituto Pasteur Italia- Fondazione Cenci Bolognetti and Department of Biochemical Sciences "A. Rossi Fanelli", Sapienza University of Rome, Rome, Italy.

Vitamins B (thiamine) and B (pyridox (al/ine/amine)) are crucial for central nervous system (CNS) function and neurogenesis due to the coenzyme action of their phosphorylated derivatives in the brain metabolism of glucose and neurotransmitters. Here, the non-coenzyme action of thiamine on the major mammalian producers of pyridoxal-5'-phosphate (PLP), such as pyridoxal kinase (PdxK) and pyridoxine 5'-phosphate oxidase (PNPO), is characterized. Among the natural thiamine compounds, thiamine triphosphate (ThTP) is the best effector of recombinant human PdxK (hPdxK) in vitro, inhibiting hPdxK in the presence of Mg but activating the Zn -dependent reaction. Read More

BMJ Case Rep 2022 Jan 4;15(1). Epub 2022 Jan 4.

Neonatology, Rainbow Children's Hospital, Hyderabad, Telangana, India.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia. Read More

J Bacteriol 2022 03 3;204(3):e0052121. Epub 2022 Jan 3.

Department of Applied Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Chikusa, Nagoya, Aichi, Japan.

The pyridoxal 5'-phosphate (PLP)-binding protein (PLPBP) plays an important role in vitamin B homeostasis. Loss of this protein in organisms such as Escherichia coli and humans disrupts the vitamin B pool and induces intracellular accumulation of pyridoxine 5'-phosphate (PNP), which is normally undetectable in wild-type cells. This accumulated PNP could affect diverse metabolic systems through the inhibition of some PLP-dependent enzymes. Read More

Nutrients 2021 Dec 17;13(12). Epub 2021 Dec 17.

Graduate School of Integrated Sciences for Life, Hiroshima University, 1-4-4 Kagamiyama, Higashi, Hiroshima 739-8528, Japan.

Emerging research in human studies suggests an association among vitamin B6, sarcopenia, and muscle strength. However, very little is known regarding its potential role at the cellular level, especially in muscle satellite cells. Therefore, to determine whether vitamin B6 affects the satellite cells, we isolated single myofibers from muscles of vitamin B6-deficient and vitamin B6-supplemented mice. Read More

J Peripher Nerv Syst 2022 03 29;27(1):31-37. Epub 2021 Dec 29.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Pyridoxine (vitamin B6) toxicity is known to cause a length-dependent, sensory predominant axonal polyneuropathy. There is debate regarding the threshold at which intake levels can cause neurological symptoms through pyridoxine toxicity. We asked if elevated plasma vitamin B6 levels were related to outcome measures in a well-characterized cohort of patients with chronic idiopathic axonal polyneuropathy (CIAP). Read More

J Pediatr Endocrinol Metab 2022 Mar 14;35(3):325-332. Epub 2021 Dec 14.

Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

Background: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by ) deficiency. Symptoms of untreated classical HCU patients include intellectual disability (ID), ectopia lentis and long limbs, along with elevated plasma methionine, and homocysteine.

Methods: A total of 429 ID patients (age range: 1. Read More

Int J Mol Sci 2021 Nov 6;22(21). Epub 2021 Nov 6.

Istituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, 00185 Rome, Italy.

Several variants of the enzyme pyridox(am)ine 5'-phosphate oxidase (PNPO), responsible for a rare form of vitamin B-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have been characterised with respect to their structural and functional properties, despite the fact that the knowledge of how variants affect the enzyme may clarify the disease mechanism and improve treatment. Here, we report the characterisation of the catalytic, allosteric and structural properties of recombinantly expressed D33V, R161C, P213S, and E50K variants, among which D33V (present in approximately 10% of affected patients) is one of the more common variants responsible for PNPOD. Read More

Horm Res Paediatr 2021 21;94(9-10):390-398. Epub 2021 Oct 21.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations in the biomineralization-associated alkaline phosphatase gene, encoding tissue-nonspecific alkaline phosphatase (TNSALP). Symptoms include skeletal hypomineralization and extra-skeletal manifestations such as pyridoxine (B6)-responsive seizures due to impaired cerebral B6 passage. Since the introduction of enzyme replacement therapy (ERT), skeletal manifestations and B6-responsive seizures were reported to improve significantly. Read More

Nutrients 2021 Sep 17;13(9). Epub 2021 Sep 17.

Department of Surgical Education, Wroclaw Medical University, 50-668 Wroclaw, Poland.

Vitamin B6 is a fascinating molecule involved in the vast majority of changes in the human body because it is a coenzyme involved in over 150 biochemical reactions. It is active in the metabolism of carbohydrates, lipids, amino acids, and nucleic acids, and participates in cellular signaling. It is an antioxidant and a compound with the ability to lower the advanced glycation end products (AGE) level. Read More

Bone 2022 01 20;154:116204. Epub 2021 Sep 20.

Department of Chemistry, Purdue University Fort Wayne, Fort Wayne, IN 46805, USA. Electronic address:

Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphomonoester phosphohydrolase expressed in healthy people especially in the skeleton, liver, kidneys, and developing teeth. In HPP, diminished TNSALP activity leads to extracellular accumulation of its natural substrates including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B (B). Read More

Toxicol Rep 2021 30;8:1607-1615. Epub 2021 Aug 30.

Laboratory of Environmental Toxicology, Chulabhorn Research Institute, Bangkok, Thailand.

Pyridoxine is a co-factor in many enzymatic reactions and impacts of deficiency have been observed in affected populations. A possible modifying effect of pyridoxine deficiency on benzene toxicity was assessed in male BCF mice fed either a pyridoxine-deficient diet or a control diet. This treatment was combined with benzene inhalation exposure (100 ppm) or no benzene treatment. Read More

Eur J Nutr 2022 Mar 26;61(2):605-613. Epub 2021 Aug 26.

Graduate School of Integrated Sciences for Life, Hiroshima University, Higashi-Hiroshima, 739-8528, Japan.

Although overt vitamin B6 deficiency is rare, marginal vitamin B6 deficiency is frequent and occurs in a consistent proportion of the population. The marginal vitamin B6 deficiency appears to relate to an increased risk of inflammation-related diseases, such as cardiovascular diseases and cancers. Of all the cardiovascular diseases, heart failure is a complex clinical syndrome associated with a high mortality rate. Read More

Molecules 2021 Jul 25;26(15). Epub 2021 Jul 25.

Department of Chemistry, College of Science, UAE University, Al Ain 15551, United Arab Emirates.

Water-soluble B vitamins participate in numerous crucial metabolic reactions and are critical for maintaining our health. Vitamin B deficiencies cause many different types of diseases, such as dementia, anaemia, cardiovascular disease, neural tube defects, Crohn's disease, celiac disease, and HIV. Vitamin B3 deficiency is linked to pellagra and cancer, while niacin (or nicotinic acid) lowers low-density lipoprotein (LDL) and triglycerides in the blood and increases high-density lipoprotein (HDL). Read More