Results 11 to 20 of about 67,450 (309)

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

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, Magdalena Pająk, Renata Pająk, Justyna Paprocka   +3 more
doaj   +2 more sources

Effects of Pyridoxine Deficiency on Hippocampal Function and Its Possible Association with V-Type Proton ATPase Subunit B2 and Heat Shock Cognate Protein 70

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, Woosuk Kim, Kyu Ri Hahn, Hyun Jung Kwon, Sung Min Nam, Jin Young Chung, Yeo Sung Yoon, Dae Won Kim, Dae Young Yoo, In Koo Hwang   +9 more
doaj   +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, Sidney M. Gospe  Jr.   +1 more
doaj   +2 more sources

4-Pyridoxic Acid/Pyridoxine Ratio in Patients with Type 2 Diabetes is Related to Global Cardiovascular Risk Scores

Diagnostics, 2019
Background: Vascular diseases are multifactorial and several risk factors may have synergetic effect on the global vascular risk. Among patients with diabetes, we investigated whether vitamin B6 species differ according to global cardiovascular risk ...
Rima Obeid, Juergen Geisel, Wilfred A. Nix   +2 more
doaj   +2 more sources

POTENTIOMETRIC AND CONDUCTIMETRIC STUDIES OF CHEMICAL EQUILIBRIA FOR PYRIDOXINE HYDROCHLORIDE IN AQUEOUS SOLUTIONS: SIMPLE EXPERIMENTAL DETERMINATION OF PKA VALUES AND ANALYTICAL APPLICATIONS TO PHARMACEUTICAL ANALYSIS

Eclética Química, 2018
The combination of two low-cost classical procedures based on titrimetric techniques is presented for the determination of pyridoxine hydrochloride in pharmaceuticals samples.
Thiago de Almeida Drumond dos Santos, Diego Oliveira da Costa, Samuel Silva da Rocha Pita, Felipe Silva Semaan   +3 more
doaj   +2 more sources

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

Advances in Nutrition, 2021
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.
Felix Hadtstein, M. Vrolijk
semanticscholar   +1 more source

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Neurology, 2022
Background and Objectives Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation.
C. Coughlin, L. Tseng, L. Bok, H. Hartmann, E. Footitt, P. Striano, B. Tabarki, R. Lunsing, S. Stockler-Ipsiroglu, S. Gordon, J. V. Van Hove, J. Abdenur, M. Boyer, N. Longo, A. Andrews, M. Janssen, A. V. van Wegberg, C. Prasad, A. Prasad, M. Lamb, F. Wijburg, S. Gospe, C. V. van Karnebeek   +22 more
semanticscholar   +1 more source

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Molecular Genetics and Metabolism, 2022
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.
L. Tseng, J. Abdenur, A. Andrews, Verena G. Aziz, L. Bok, M. Boyer, D. Buhas, H. Hartmann, E. Footitt, S. Grønborg, M. Janssen, N. Longo, R. Lunsing, A. MacKenzie, F. Wijburg, S. Gospe, C. Coughlin, C. V. van Karnebeek   +17 more
semanticscholar   +1 more source

Pyridoxine induces glutathione synthesis via PKM2-mediated Nrf2 transactivation and confers neuroprotection

Nature Communications, 2020
Oxidative stress is a major pathogenic mechanism in Parkinson’s disease (PD). As an important cellular antioxidant, glutathione (GSH) balances the production and incorporation of free radicals to protect neurons from oxidative damage.
Y. Wei, Ming Lu, M. Mei, Hao Wang, Zhitao Han, Miaomiao Chen, H. Yao, Nanshan Song, Xiaojing Ding, Jian-hua Ding, Ming Xiao, G. Hu   +11 more
semanticscholar   +1 more source

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

Journal of Inherited Metabolic Disease, 2020
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.
C. Coughlin, L. Tseng, J. Abdenur, C. Ashmore, F. Boemer, L. Bok, M. Boyer, D. Buhas, P. Clayton, A. Das, Hanka Dekker, A. Evangeliou, F. Feillet, E. Footitt, S. Gospe, H. Hartmann, Majdi Kara, E. Kristensen, J. Lee, R. Lilje, N. Longo, R. Lunsing, P. Mills, M. Papadopoulou, P. Pearl, F. Piazzon, B. Plecko, A. Saini, S. Santra, D. Sjarif, S. Stockler-Ipsiroglu, P. Striano, J. V. Van Hove, N. Verhoeven-Duif, F. Wijburg, S. Zuberi, C. V. van Karnebeek   +36 more
semanticscholar   +1 more source