pyridoxine has been researched along with Acquired Metabolic Diseases, Brain in 14 studies
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO)." | 7.76 | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( Baumgartner, M; Clayton, PT; Jakobs, C; Keller, E; Mills, PB; Schmitt, B; Wohlrab, G, 2010) |
| " Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
| " Disruptions of glutamate metabolism have been implicated in other clinical disorders, such as pyridoxine-dependent seizures, confirming the importance of intact glutamate metabolism." | 4.81 | Disorders of glutamate metabolism. ( Kelly, A; Stanley, CA, 2001) |
| " A dramatic therapeutic response to pyridoxine was observed in the only patient who still had active seizures when starting treatment, while in all three patients interictal EEG discharges and background activity improved after pyridoxine treatment was initiated." | 3.85 | Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. ( Carducci, C; Contestabile, R; di Salvo, ML; Guerrini, R; Leuzzi, V; Mastrangelo, M; Mei, D; Montomoli, M; Nogués, I; Paiardini, A; Tolve, M; Tramonti, A, 2017) |
| "To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations." | 3.80 | Pyridoxine responsiveness in novel mutations of the PNPO gene. ( Abela, L; Clayton, P; Connolly, M; Hasselmann, O; Hofer, D; Kanz, S; Maier, O; Mills, P; Paschke, E; Paul, K; Plecko, B; Schmiedel, G; Stockler, S; Struys, E; Wolf, N, 2014) |
| "We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO)." | 3.76 | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( Baumgartner, M; Clayton, PT; Jakobs, C; Keller, E; Mills, PB; Schmitt, B; Wohlrab, G, 2010) |
| "Among these, pyridoxine-dependent seizures due to antiquitin deficiency is by far the most common, although exact incidence data are lacking." | 2.49 | Pyridoxine and pyridoxalphosphate-dependent epilepsies. ( Plecko, B, 2013) |
| "About 7/18 (39%) of patients showed seizure-free with pyridoxine (PN) or pyridoxal-5'-phosphate treatment." | 1.91 | Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. ( Gong, P; Jiao, X; Niu, Y; Xu, Z; Yang, Z; Zhang, Y, 2023) |
| "Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration." | 1.46 | Pyridoxine dependent epilepsies: new therapeutical point of view. ( Corsello, G; Falsaperla, R, 2017) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (7.14) | 29.6817 |
| 2010's | 11 (78.57) | 24.3611 |
| 2020's | 2 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Jiao, X | 1 |
| Gong, P | 1 |
| Niu, Y | 1 |
| Xu, Z | 1 |
| Zhang, Y | 1 |
| Yang, Z | 1 |
| Garcia-Ezquiaga, J | 1 |
| Carrasco-Marina, ML | 1 |
| Gutierrez-Cruz, N | 1 |
| Iglesias-Escalera, G | 1 |
| Castro-Reguera, M | 1 |
| Perez-Gonzalez, B | 1 |
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Lopez-Marin, L | 1 |
| Falsaperla, R | 1 |
| Corsello, G | 1 |
| di Salvo, ML | 1 |
| Mastrangelo, M | 1 |
| Nogués, I | 1 |
| Tolve, M | 1 |
| Paiardini, A | 1 |
| Carducci, C | 1 |
| Mei, D | 1 |
| Montomoli, M | 1 |
| Tramonti, A | 1 |
| Guerrini, R | 1 |
| Contestabile, R | 1 |
| Leuzzi, V | 1 |
| Plecko, B | 2 |
| Pearl, PL | 1 |
| Gospe, SM | 2 |
| Paul, K | 1 |
| Mills, P | 1 |
| Clayton, P | 1 |
| Paschke, E | 1 |
| Maier, O | 1 |
| Hasselmann, O | 1 |
| Schmiedel, G | 1 |
| Kanz, S | 1 |
| Connolly, M | 1 |
| Wolf, N | 1 |
| Struys, E | 1 |
| Stockler, S | 1 |
| Abela, L | 1 |
| Hofer, D | 1 |
| Ware, TL | 1 |
| Pitt, J | 1 |
| Freeman, J | 1 |
| Schmitt, B | 1 |
| Baumgartner, M | 1 |
| Mills, PB | 1 |
| Clayton, PT | 1 |
| Jakobs, C | 1 |
| Keller, E | 1 |
| Wohlrab, G | 1 |
| Baxter, P | 1 |
| Kelly, A | 1 |
| Stanley, CA | 1 |
4 reviews available for pyridoxine and Acquired Metabolic Diseases, Brain
| Article | Year |
|---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
[Metabolic approach in epileptic encephalopathies in infants].
Topics: Age of Onset; Biotin; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Child, Preschool | 2017 |
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Topics: Brain Diseases, Metabolic; Child; Epilepsy; Humans; Hypoxia-Ischemia, Brain; Pyridoxaminephosphate O | 2013 |
Disorders of glutamate metabolism.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; ATP-Binding Cassette Transporters; Bacterial Pro | 2001 |
10 other studies available for pyridoxine and Acquired Metabolic Diseases, Brain
| Article | Year |
|---|---|
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Topics: Brain Diseases, Metabolic; Humans; Hypoxia-Ischemia, Brain; Metabolic Diseases; Oxidoreductases; Pho | 2023 |
[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].
Topics: Adolescent; Brain Diseases, Metabolic; Chromosomes, Human, Pair 17; Epilepsy; Female; Humans; Hypoxi | 2019 |
Pyridoxine dependent epilepsies: new therapeutical point of view.
Topics: Anticonvulsants; Brain Diseases, Metabolic; Child, Preschool; Electroencephalography; Epilepsy; Fema | 2017 |
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Topics: Brain Diseases, Metabolic; Child, Preschool; Female; Humans; Hypoxia-Ischemia, Brain; Infant; Male; | 2017 |
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier.
Topics: Animals; Brain Diseases, Metabolic; DNA Mutational Analysis; Female; Humans; Hypoxia-Ischemia, Brain | 2014 |
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Topics: Aldehyde Dehydrogenase; Alleles; Animals; Brain Diseases, Metabolic; CHO Cells; Chromosome Deletion; | 2014 |
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Topics: Animals; Brain Diseases, Metabolic; DNA Mutational Analysis; Female; Humans; Hypoxia-Ischemia, Brain | 2015 |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Topics: Aldehyde Dehydrogenase; Anticonvulsants; Brain; Brain Diseases, Metabolic; Diagnosis, Differential; | 2010 |
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Topics: Anticonvulsants; Brain; Brain Diseases, Metabolic; Electroencephalography; Epilepsy; Eye Movements; | 2010 |
Recent insights into pre- and postnatal pyridoxal phosphate deficiency, a treatable metabolic encephalopathy.
Topics: Age of Onset; Anticonvulsants; Brain; Brain Diseases, Metabolic; Diagnosis, Differential; Electroenc | 2010 |