Results 61 to 70 of about 1,711 (154)

A new branch of mammalian vitamin B6 metabolism: AKR1C‐mediated conversion of pyridoxal to pyridoxine and 4‐pyridoxolactone

The FEBS Journal, EarlyView.
Pyridoxal 5′‐phosphate (PLP) homeostasis relies on salvage enzymes, yet key metabolic branches remain undefined. We identify AKR1C isozymes as previously undescribed contributors that convert pyridoxal into pyridoxine or 4‐pyridoxolactone through reductase and dehydrogenase activities.
Nayu Kito, Yasuyuki Kitaura, Kyoka Iino, Kazuya Toriumi, Hyunah Noh, Naoya Ogawa, Makoto Arai, Hisashi Hemmi, Tomokazu Ito   +8 more
wiley   +1 more source

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 [PDF]

The American Journal of Human Genetics, 2000
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the binding of pyridoxal 5-phosphate to glutamic acid decarboxylase (GAD) has been postulated in patients ...
Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier   +8 more
openaire   +2 more sources

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source

Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children

Frontiers in Neurology
AimEvaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures.MethodsThe study included all children with pyridoxine-responsive seizures treated in our hospital from ...
Ružica Kravljanac, Biljana Vučetić Tadić, Vladimir Oparnica   +2 more
doaj   +1 more source

Effect of Nutritional Factors on Mental Health Problems in Autism Spectrum Disorder: A Narrative Synthesis of Current Evidence

Brain and Behavior, Volume 16, Issue 7, July 2026.
This narrative synthesis of 21 studies evaluates nutritional interventions for psychiatric comorbidities in ASD. Vitamin D3, omega‐3 fatty acids, and probiotics show preliminary benefits for anxiety and irritability, whereas GFCF diet results remain inconclusive.
Nalan Hakime Nogay, Gulin Ozturk Ozkan
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Background:Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.Case report:In 21 and 23 year-old sisters ...
Alfadhel, M., Sirrs, S., Waters, P.J., Szeitz, A., Struijs, E.A., Coulter-Mackie, M., Stockler-Ipsiroglu, S.   +6 more
openaire   +3 more sources

PLP Homeostasis Protein Is Required for Efficient Maturation of Aromatic Amino Acid Aminotransferase in Salmonella enterica

Molecular Microbiology, Volume 126, Issue 1, Page 1-14, July 2026.
Cellular pool of aromatic amino acid aminotransferase proteins represented as holo‐ or apo‐ enzymes, reflecting presence or absence of associated PLP. Status of PLPHP is implicated in determining the ratio of holo‐ and apo‐TyrB. ABSTRACT Pyridoxal 5′‐phosphate (PLP) is an essential cofactor required for metabolic functions including amino acid ...
Brandi A. Buckner, Diana M. Downs
wiley   +1 more source

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, Volume 28, Issue 3, Page 878-883, June 2026.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source