Results 21 to 30 of about 3,050,532 (174)

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus [PDF]

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +2 more sources

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia [PDF]

The Turkish Journal of Pediatrics, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +2 more sources

Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy

Neuropediatrics, 2005
Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder. We have recently described isolated pipecolic acid elevations in the plasma and/or CSF of three patients with pyridoxine-dependent epilepsy with an intriguing inverse correlation to the oral intake of pyridoxine.
Plecko, B, Hikel, C, Korenke, G-C, Schmitt, B, Baumgartner, Matthias R, Baumeister, F, Jakobs, C, Struys, E, Erwa, W, Stöckler-Ipsiroglu, S   +9 more
openaire   +4 more sources

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +2 more sources

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2023
AIM 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).
Crowther LM, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, Mathis D, Plecko B.   +7 more
europepmc   +5 more sources

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy [PDF]

Frontiers in Pediatrics, 2019
Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang, Junjuan Wang, Jiao Xue, Pan Gong, Minhang Wu, Wenshuang Yang, Shiju Jiang, Ye Wu, Yuwu Jiang, Yuehua Zhang, Tatiana Yuzyuk, Tatiana Yuzyuk, Hong Li, Zhixian Yang   +13 more
doaj   +2 more sources

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

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   +2 more sources

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study [PDF]

Frontiers in Neurology
PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen, Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Laurence A. Bindoff, Trond Sand, Trond Sand, Eylert Brodtkorb, Eylert Brodtkorb   +14 more
doaj   +2 more sources

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines [PDF]

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +2 more sources

Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital [PDF]

Arquivos de Neuro-Psiquiatria, 2007
Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine.
Jaime Lin, Katia Lin, Marcelo Rodrigues Masruha, Luiz Celso Pereira Vilanova   +3 more
doaj   +5 more sources