pyridoxine has been researched along with Brain Diseases, Metabolic, Familial in 7 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 |
|---|---|---|
| " 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) |
| " The prototype is pyridoxine dependency, although pyridoxal 5'-phosphate dependency is a recently recognized but treatable neonatal epilepsy that deserves earmarked distinction." | 4.85 | New treatment paradigms in neonatal metabolic epilepsies. ( Pearl, PL, 2009) |
| "The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures." | 3.74 | PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. ( Elisha, MB; Falik-Zaccai, TC; Frankel, P; Hershckowitz, S; Khayat, M; Korman, SH; Sheffer, VF; Weintraub, Z; Wevers, RA, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (42.86) | 29.6817 |
| 2010's | 3 (42.86) | 24.3611 |
| 2020's | 1 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Lopez-Marin, L | 1 |
| Al-Baradie, RS | 1 |
| Chaudhary, MW | 1 |
| Szymańska, K | 1 |
| Kuśmierska, K | 1 |
| Demkow, U | 1 |
| Pearl, PL | 2 |
| Capp, PK | 1 |
| Novotny, EJ | 1 |
| Gibson, KM | 1 |
| Khayat, M | 1 |
| Korman, SH | 1 |
| Frankel, P | 1 |
| Weintraub, Z | 1 |
| Hershckowitz, S | 1 |
| Sheffer, VF | 1 |
| Elisha, MB | 1 |
| Wevers, RA | 1 |
| Falik-Zaccai, TC | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Effects of Glycine Transport Inhibition on Brain Glycine Concentration[NCT00538070] | 68 participants (Actual) | Interventional | 2007-08-31 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
4 reviews available for pyridoxine and Brain Diseases, Metabolic, Familial
| 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 |
New treatment paradigms in neonatal metabolic epilepsies.
Topics: Brain Diseases, Metabolic, Inborn; Electroencephalography; Epilepsy; Humans; Infant, Newborn; Pyrido | 2009 |
Inherited disorders of neurotransmitters in children and adults.
Topics: Adult; Biopterins; Brain Diseases, Metabolic, Inborn; Child; Folic Acid Deficiency; Humans; Infant, | 2005 |
3 other studies available for pyridoxine and Brain Diseases, Metabolic, Familial
| Article | Year |
|---|---|
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.
Topics: Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Child Development Disorders, Pervasive; Child, Pr | 2014 |
Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.
Topics: Biogenic Amines; Biopterins; Brain Diseases, Metabolic, Inborn; Child, Preschool; Folic Acid; gamma- | 2015 |
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Topics: Amino Acid Substitution; Animals; Brain Diseases, Metabolic, Inborn; CHO Cells; Codon, Nonsense; Con | 2008 |