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pyridoxal phosphate and Metabolism, Inborn Errors

pyridoxal phosphate has been researched along with Metabolism, Inborn Errors in 15 studies

Pyridoxal Phosphate: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE).
pyridoxal 5'-phosphate : The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal.

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
"Elevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine-dependent epilepsy, but its molecular background is unclear."3.73Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. ( Hoeger, H; Jakobs, C; Leschnik, M; Muehl, A; Plecko, B; Stoeckler-Ipsiroglu, S; Stromberger, C; Struys, E, 2005)
"Vitamin B(6) dependent seizure disorders are an important and treatable cause of childhood epilepsy."1.39Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. ( Clayton, PT; Footitt, EJ; Heales, SJ; Mills, K; Mills, PB; Neergheen, V; Oppenheim, M, 2013)
"Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism."1.34Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. ( Bagci, S; Bast, T; Baumgartner, MR; Clayton, PT; Franz, AR; Hoffmann, GF; Mills, PB; Schmitt, B; Steinmann, B; Strehl, H; Wagner, N; Windfuhr, M; Wolf, NI; Zschocke, J, 2007)

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19907 (46.67)18.7374
1990's0 (0.00)18.2507
2000's3 (20.00)29.6817
2010's4 (26.67)24.3611
2020's1 (6.67)2.80

Authors

AuthorsStudies
Ghatge, MS1
Al Mughram, M1
Omar, AM1
Safo, MK1
Cellini, B1
Montioli, R1
Oppici, E1
Astegno, A1
Voltattorni, CB1
Mathis, D1
Abela, L1
Albersen, M1
Bürer, C1
Crowther, L1
Beese, K1
Hartmann, H1
Bok, LA1
Struys, E2
Papuc, SM1
Rauch, A1
Hersberger, M1
Verhoeven-Duif, NM1
Plecko, B2
Pearl, PL1
Gospe, SM1
Footitt, EJ2
Heales, SJ2
Mills, PB3
Allen, GF1
Oppenheim, M2
Clayton, PT3
Mills, K1
Neergheen, V1
Hoeger, H1
Jakobs, C1
Stromberger, C1
Leschnik, M1
Muehl, A1
Stoeckler-Ipsiroglu, S1
Hoffmann, GF1
Schmitt, B1
Windfuhr, M1
Wagner, N1
Strehl, H1
Bagci, S1
Franz, AR1
Baumgartner, MR1
Steinmann, B1
Bast, T1
Wolf, NI1
Zschocke, J1
Shideler, CE1
Mudd, SH1
Arakawa, T1
Tamura, T1
Higashi, O1
Ohara, K1
Tanno, K1
Ebadi, MS1
Bostad, R1
Pellegrino, RJ1
Rosenberg, LE1
Lilljeqvist, A1
Hsia, YE1

Reviews

5 reviews available for pyridoxal phosphate and Metabolism, Inborn Errors

ArticleYear
Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.
    Biochimie, 2021, Volume: 183

    Topics: Animals; Brain Diseases, Metabolic; Humans; Hypoxia-Ischemia, Brain; Infant, Newborn; Metabolism, In

2021
The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.
    Clinical biochemistry, 2014, Volume: 47, Issue:3

    Topics: Animals; Coenzymes; Humans; Metabolism, Inborn Errors; Molecular Chaperones; Protein Folding; Proteo

2014
Vitamin B6: an overview.
    The American journal of medical technology, 1983, Volume: 49, Issue:1

    Topics: Adult; Animals; Chemical Phenomena; Chemistry; Child; Female; Humans; Infant; Metabolism, Inborn Err

1983
Vitamin-responsive genetic abnormalities.
    Advances in nutritional research, 1982, Volume: 4

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Apoenzymes; Cystathionine beta-Synthase; Genetic

1982
Fate of vitamin B 6 in the I-strain mouse.
    Nutrition reviews, 1972, Volume: 30, Issue:7

    Topics: Alcohol Oxidoreductases; Animals; Carboxylic Acids; Intestinal Absorption; Metabolism, Inborn Errors

1972

Other Studies

10 other studies available for pyridoxal phosphate and Metabolism, Inborn Errors

ArticleYear
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:5

    Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Mal

2016
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:1

    Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pyridoxal Phos

2007
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cysteine; Epilepsy; False Positive Reactions

2011
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:1

    Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Metabolism, Inborn Er

2013
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Animal Nutritional Physiological Phenomena; Animals; Brain; Disease Models, Animal; Epilepsy; Female

2005
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:1

    Topics: Age of Onset; Brain Diseases; Child, Preschool; Epilepsy; Female; Humans; Infant; Infant, Newborn; M

2007
Genetic determination of coenzyme synthesis in red cells.
    Nutrition reviews, 1981, Volume: 39, Issue:9

    Topics: Disease Susceptibility; Erythrocytes; Humans; Metabolism, Inborn Errors; Pyridoxal Phosphate; Ribofl

1981
Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid.
    The Tohoku journal of experimental medicine, 1968, Volume: 94, Issue:1

    Topics: Anemia, Macrocytic; Blood Cell Count; Bone Marrow Examination; Cerebral Ventriculography; Erythrocyt

1968
Impairment of pyridoxal phosphate dependent metabolic reactions in a child with subacute necrotizing encephalopathy.
    Journal of neurology, neurosurgery, and psychiatry, 1969, Volume: 32, Issue:5

    Topics: 5-Hydroxytryptophan; Amines; Autopsy; Basal Ganglia; Brain Diseases; Carboxy-Lyases; Dopamine; Femal

1969
Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.
    Science (New York, N.Y.), 1968, Nov-15, Volume: 162, Issue:3855

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Coenzyme A; Humans;

1968