3,513 results match your criteria: "Pyridoxine Deficiency"
Metab Brain Dis
December 2024
School of Medicine, Jiangsu University, Zhenjiang, Jiangsu Province, 212013, PR China.
Schizophrenia is a kind of neurodevelopmental mental disorder in which patients begin to experience changes early in their development, typically manifesting around or after puberty and has a fluctuating course. Environmental disturbances during adolescence may be a risk factor for schizophrenia-like deficits. As a better treatment option, preventive intervention prior to schizophrenia may be more beneficial than direct treatment.
View Article and Find Full Text PDFSubcell Biochem
December 2024
Institute for Health and Sport, Victoria University, Werribee, VIC, Australia.
B vitamin complex consist of vitamins B1, B2, B5, B6, B9, B12 and is pivotal for overall health, influencing vital functions such as, energy metabolism, DNA maintenance, and healthy immune system. Inadequate B vitamin levels are associated with various health issues, including neurocognitive problems, immune imbalances, and inflammation. In ageing individuals, deficiencies in B vitamins increase the risk of cardiovascular ailments, stroke, cognitive disorders, neurodegeneration, mental health issues, and methylation-related disorders.
View Article and Find Full Text PDFCell Rep
December 2024
Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada. Electronic address:
Lysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction. In this study, we perform metabolomics and expression analysis of tissues from Aldh7a1-deficient mice, which reveal tissue-specific differences in lysine metabolism and other metabolic pathways.
View Article and Find Full Text PDFNutrients
November 2024
Postgraduate Program in Epidemiology, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-190, Rio Grande do Sul, Brazil.
J Med Case Rep
November 2024
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Pyridoxamine 5'-phosphate oxidase deficiency is a rare inborn error of vitamin B metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B metabolite pyridoxal 5'-phosphate and, in some cases, pyridoxine.
Case Presentation: In this case report, a 10-year-old Iranian male of Fars ethnicity came to a regional hospital in Tehran, Iran with a chief complaint of tic-like movement.
BMC Neurol
November 2024
Department of Inherited Metabolic Diseases, Children's University Hospital, Damascus, Syria.
Background: Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the accumulation of certain substances that impact the production of various brain neurotransmitters and enzymes.
Case Presentation: Our report presents the first documented case of pyridoxine dependency in Syria.
Pediatr Int
January 2024
Department of Pediatrics, Yachiyo Medical Center, Tokyo Women's Medical University, Yachiyo, Chiba, Japan.
Front Pharmacol
September 2024
Centre for Drug Discovery, BRIC-Translational Health Science and Technology Institute, Faridabad, Haryana, India.
Int J Mol Sci
September 2024
Graduate School of Integrated Sciences for Life, Hiroshima University, Higashi-Hiroshima 739-8528, Japan.
Marginal vitamin B6 (B6) deficiency is common in various segments worldwide. In a super-aged society, sarcopenia is a major concern and has gained significant research attention focused on healthy aging. To date, the primary interventions for sarcopenia have been physical exercise therapy.
View Article and Find Full Text PDFFront Genet
September 2024
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Eur J Paediatr Dent
September 2024
Director of the Postgraduate School of Paediatric Dentistry, University of Pisa.
J Inherit Metab Dis
August 2024
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first-line choices) can only alleviate the symptoms. Gene therapy surgery is now available for severe patients in the European Union and the United Kingdom, and follow-up data witness encouraging improvements.
View Article and Find Full Text PDFHeliyon
July 2024
Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
Purpose: Infertility is a worldwide concern, and recent research indicates that vitamin B deficiency may play a role in male infertility, primarily by inducing hyperhomocysteinemia and oxidative stress. These processes can have a detrimental effect on semen quality, ultimately affecting male fertility. Here, we aim to evaluate the biochemical status of pyridoxine (vitamin B) in relation to total glutathione and total antioxidant capacity.
View Article and Find Full Text PDFMol Genet Metab
October 2024
Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address:
J Inherit Metab Dis
July 2024
Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (α-AASA) and Δ-piperideine-6-carboxylate (P6C), which accumulate because of the block in the lysine pathway, are diagnostic biomarkers for this disorder.
View Article and Find Full Text PDFBlood
September 2024
Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Zh Nevrol Psikhiatr Im S S Korsakova
June 2024
Pirogov Russian National Research Medical University, Moscow, Russia.
Various diseases of the peripheral nervous system are associated with metabolic disorders of B vitamins. A lack of neurotropic vitamins, which began in the early stages of the development of a bacterial disease, led to its more rapid development. The article analyzes data on B vitamin deficiency in the pathogenesis of the most dangerous diseases of the peripheral nervous system.
View Article and Find Full Text PDFJ Inherit Metab Dis
September 2024
Department of Pharmacology, Faculty of Science and Medicine, University of Fribourg, Fribourg, Switzerland.
This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine β-synthase (CBS) was discovered in 1962, and Prof. Jan Peter Kraus summarised developments in the field in the first-ever Komrower lecture in 1993.
View Article and Find Full Text PDFElife
June 2024
Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
Vitamin B6 deficiency has been linked to cognitive impairment in human brain disorders for decades. Still, the molecular mechanisms linking vitamin B6 to these pathologies remain poorly understood, and whether vitamin B6 supplementation improves cognition is unclear as well. Pyridoxal 5'-phosphate phosphatase (PDXP), an enzyme that controls levels of pyridoxal 5'-phosphate (PLP), the co-enzymatically active form of vitamin B6, may represent an alternative therapeutic entry point into vitamin B6-associated pathologies.
View Article and Find Full Text PDFCell Death Dis
June 2024
Dept. of Biology and Biotechnology "Charles Darwin", Sapienza University of Rome, 00185, Rome, Italy.