Effects of Pyridoxine Deficiency on Hippocampal Function and Its Possible Association with V-Type Proton ATPase Subunit B2 and Heat Shock Cognate Protein 70 [PDF]
Cells, 2020 Pyridoxine, one of the vitamin B6 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.
Hyo Young Jung +9 more
doaj +3 more sources
Pyridoxine deficiency modulates benzene inhalation-induced hematotoxicity associated with hepatic CYP2E1 activity in B6C3F1 mice [PDF]
Toxicology Reports, 2021 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 B6C3F1 mice fed either a pyridoxine ...
Chanthana Tangjarukij +4 more
doaj +3 more sources
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures [PDF]
Brain Sciences, 2021 Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ).
Konrad Kaminiów +3 more
doaj +3 more sources
Complexities of pyridoxine response in PNPO deficiency
Epilepsy & Behavior Reports, 2021 Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus.
Rajni Farmania +4 more
doaj +3 more sources
Pyridoxine Deficiency and Neurologic Dysfunction: An Unlikely Association. [PDF]
Cureus, 2023 Pyridoxine deficiency is a prevalent condition in the United States that primarily affects patients with alcohol use disorder. The presentation of this condition is very nonspecific and commonly presents with a constellation of symptoms including ...
Sousou JM +3 more
europepmc +2 more sources
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency [PDF]
International Journal of Molecular Sciences, 2022 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants.
Hans-Otto Böhm +8 more
openalex +2 more sources
Pyridoxine Deficiency Exacerbates Neuronal Damage after Ischemia by Increasing Oxidative Stress and Reduces Proliferating Cells and Neuroblasts in the Gerbil Hippocampus. [PDF]
Int J Mol Sci, 2020 We investigated the effects of pyridoxine deficiency on ischemic neuronal death in the hippocampus of gerbil (n = 5 per group). Serum pyridoxal 5′-phosphate levels were significantly decreased in Pyridoxine-deficient diet (PDD)-fed gerbils, while ...
Jung HY +12 more
europepmc +2 more sources
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy [PDF]
Journal of Inherited Metabolic Disease, 2022 Deficiency of antiquitin (α‐aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6‐dependent epilepsy (PDE‐ALDH7A1). Despite seizure control with high dose pyridoxine (PN)
Lisa M. Crowther +7 more
openalex +2 more sources
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency [PDF]
JIMD Reports, 2020 Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina Kava +5 more
openalex +2 more sources
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +2 more sources