Page last updated: 2024-10-20

pyridoxine and Gyrate Atrophy

pyridoxine has been researched along with Gyrate Atrophy in 9 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).

Gyrate Atrophy: Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.

Research Excerpts

ExcerptRelevanceReference
"Case report of an adult patient with advanced gyrate atrophy, who underwent treatment with pyridoxine and an arginine-restricted diet for four years."8.31A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease. ( Burr, A; da Palma, MM; Igelman, AD; Koerner, C; Ku, C; Pennesi, ME; Shevchenko Sutherland, L; Valle, D; Yang, P, 2023)
"Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA."7.70Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. ( Inana, G; Kennaway, NG; Mashima, YG; Weleber, RG, 1999)
"Gyrate atrophy is a rare autosomal recessive disorder caused by a mutation in the ornithine-δ-amino transferase gene."3.88Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG). ( Black, G; Jasani, KM; Kelly, SP; Parry, NRA, 2018)
"Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA."3.70Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. ( Inana, G; Kennaway, NG; Mashima, YG; Weleber, RG, 1999)

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (33.33)18.2507
2000's1 (11.11)29.6817
2010's4 (44.44)24.3611
2020's1 (11.11)2.80

Authors

AuthorsStudies
da Palma, MM1
Ku, C1
Igelman, AD1
Burr, A1
Shevchenko Sutherland, L1
Koerner, C1
Valle, D2
Pennesi, ME1
Yang, P1
Heller, D1
Weiner, C1
Nasie, I1
Anikster, Y1
Landau, Y1
Koren, T1
Pokroy, R1
Abulafia, A1
Pras, E1
Jasani, KM1
Parry, NRA1
Black, G1
Kelly, SP1
Montioli, R1
Desbats, MA1
Grottelli, S1
Doimo, M1
Bellezza, I1
Borri Voltattorni, C1
Salviati, L1
Cellini, B1
Tanzer, F1
Firat, M1
Alagoz, M1
Erdogan, H1
Fleury, M1
Barbier, R1
Ziegler, F1
Mohr, M1
Caron, O1
Dollfus, H1
Tranchant, C1
Warter, JM1
Michaud, J1
Thompson, GN1
Brody, LC1
Steel, G1
Obie, C1
Fontaine, G1
Schappert, K1
Keith, CG1
Mitchell, GA1
Mashima, YG1
Weleber, RG2
Kennaway, NG1
Inana, G1
Wilson, DJ1
Green, WR1

Trials

1 trial available for pyridoxine and Gyrate Atrophy

ArticleYear
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
    American journal of human genetics, 1995, Volume: 56, Issue:3

    Topics: Amino Acid Sequence; Animals; Base Sequence; Cells, Cultured; Child; CHO Cells; Cricetinae; Cricetul

1995

Other Studies

8 other studies available for pyridoxine and Gyrate Atrophy

ArticleYear
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
    Ophthalmic genetics, 2023, Volume: 44, Issue:2

    Topics: Arginine; Biomarkers; Diet; Female; Gyrate Atrophy; Humans; Lysine; Middle Aged; Ornithine; Pyridoxi

2023
Reversal of cystoid macular edema in gyrate atrophy patients.
    Ophthalmic genetics, 2017, Volume: 38, Issue:6

    Topics: Administration, Oral; Adolescent; Adult; Combined Modality Therapy; Consanguinity; Diet, Protein-Res

2017
Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).
    BMJ case reports, 2018, Feb-05, Volume: 2018

    Topics: Adult; Cataract; Cataract Extraction; Diet, Protein-Restricted; Disease Progression; Electroretinogr

2018
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
    Biochimica et biophysica acta. Molecular basis of disease, 2018, Volume: 1864, Issue:11

    Topics: Coenzymes; CRISPR-Cas Systems; Enzyme Assays; Gene Knockout Techniques; Gyrate Atrophy; HEK293 Cells

2018
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.
    BMJ case reports, 2011, Mar-15, Volume: 2011

    Topics: Biomarkers; Child; Cystinuria; Female; Gyrate Atrophy; Humans; Lysine; Night Blindness; Ornithine; P

2011
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
    Journal of neurology, neurosurgery, and psychiatry, 2007, Volume: 78, Issue:6

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Diet, Protein-Restricted; Gyrate Atrophy; Hum

2007
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
    Ophthalmic genetics, 1999, Volume: 20, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; DNA; DNA Mutational Analysis; Family He

1999
Ocular clinicopathologic study of gyrate atrophy.
    American journal of ophthalmology, 1991, Jan-15, Volume: 111, Issue:1

    Topics: Aged; Aged, 80 and over; Endothelium, Corneal; Female; Fluorescein Angiography; Fundus Oculi; Gyrate

1991