Results 51 to 60 of about 1,661 (121)

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

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

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

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 P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis

Epilepsia Open, EarlyView.
Raffaele Falsaperla, Vincenzo Sortino, Georgia Ramantani   +2 more
wiley   +1 more source

Do We Need to Monitor B‐Vitamins and Homocysteine During Initiation of Foslevodopa/Foscarbidopa Therapy?

Movement Disorders, EarlyView.
Aida Shaghaghi‐Zadeh, Matthias Höllerhage, Florian Wegner, Lan Ye, Ishana Schneidereit, Tobias Hegelmaier, Rebecca Jacob, Christoph Schrader, Martin Klietz   +8 more
wiley   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
Chloé de Puyraimond, Samia Pichard, Muriel Girard, Julian Delanne, Laurence Faivre, Apolline Imbard, Amandine Baurand, Jean‐François Benoist, Philippa B. Mills, Peter T. Clayton, Manuel Schiff   +10 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes

Indian Pediatrics Case Reports
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures.
Kavya Rajanna, Mohit Ajmera, Swati Mehta, J. Suraj Kumar   +3 more
doaj   +1 more source