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pyridoxine and Metal Metabolism, Inborn Errors

pyridoxine has been researched along with Metal Metabolism, Inborn Errors in 3 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).

Metal Metabolism, Inborn Errors: Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
"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."7.78Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 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."3.78Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Struys, EA1
Nota, B1
Bakkali, A1
Al Shahwan, S1
Salomons, GS1
Tabarki, B1
ROATH, S1
BOURNE, MS1
ISRAUELS, MC1
Thompson, MD1
Killoran, A1
Percy, ME1
Nezarati, M1
Cole, DE1
Hwang, PA1

Other Studies

3 other studies available for pyridoxine and Metal Metabolism, Inborn Errors

ArticleYear
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
    Pediatrics, 2012, Volume: 130, Issue:6

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Di

2012
FERROKINETICS IN PYRIDOXINE-RESPONSIVE ANAEMIA.
    Acta haematologica, 1964, Volume: 32

    Topics: Anemia; Anemia, Sideroblastic; Erythrocytes; Erythropoiesis; Genetic Diseases, X-Linked; Genetics, M

1964
Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?
    Pediatric neurology, 2006, Volume: 34, Issue:4

    Topics: Alkaline Phosphatase; Child, Preschool; Developmental Disabilities; Epilepsy, Tonic-Clonic; Female;

2006