Results 71 to 80 of about 2,887,246 (174)

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

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   +1 more source

Washed Microbiota Transplantation Improves Chronic‐Phase Febrile Infection‐Related Epilepsy Syndrome: The First Case Report With Long‐Term Follow‐Up and Integrated Multi‐Omics Analysis

Microbiota Medicine Research, EarlyView.
ABSTRACT Background Febrile infection‐related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy. Survivors often enter a chronic phase characterized by drug‐resistant epilepsy, cognitive impairment, behavioral and psychiatric symptoms, and long‐term functional disability.
Qianqian Li, Xiao Ding, Sheng Zhang, Faming Zhang   +3 more
wiley   +1 more source

Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

, 2012
α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
Nota, B., Bakkali, A., Tabarki, B., Al Shahwan, S., Struijs, E.A., Salomons, G.S.   +5 more
core   +1 more source

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source

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

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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, Volume 67, Issue 9, Page 4600-4617, September 2026.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy

, 2023
Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE).
Leon, Eyby, Mulkey, Sarah B, Kousa, Youssef, Miller, Ilana, Anwar, Tayyba, Fortin, Olivier, Christoffel, Kelsey, Donoho, Kelsey   +7 more
core  

Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2005
Contains fulltext : 49173.pdf (Publisher’s version ) (Open Access)
Willemsen, M.A.A.P., Mavinkurve-Groothuis, A.M.C., Wevers, R.A., Rotteveel, J.J., Jakobs, C.   +4 more
openaire   +2 more sources