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pyridoxal phosphate and Amino Acid Metabolism Disorders, Inborn

pyridoxal phosphate has been researched along with Amino Acid Metabolism Disorders, Inborn in 23 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.

Research Excerpts

ExcerptRelevanceReference
" Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy."5.05Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020)
"The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis."4.82Clinical aspects of the disorders of GABA metabolism in children. ( Gibson, KM; Pearl, PL, 2004)

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199017 (73.91)18.7374
1990's2 (8.70)18.2507
2000's2 (8.70)29.6817
2010's1 (4.35)24.3611
2020's1 (4.35)2.80

Authors

AuthorsStudies
Bouchereau, J1
Schiff, M1
Wassenberg, T1
Molero-Luis, M1
Jeltsch, K1
Hoffmann, GF1
Assmann, B1
Blau, N1
Garcia-Cazorla, A1
Artuch, R1
Pons, R1
Pearson, TS1
Leuzzi, V1
Mastrangelo, M1
Pearl, PL2
Lee, WT1
Kurian, MA1
Heales, S1
Flint, L1
Verbeek, M1
Willemsen, M1
Opladen, T1
Walker, V1
Mills, GA1
Mellor, JM1
Langley, GJ1
Farrant, RD1
Gibson, KM1
Frimpter, GW5
Greenberg, AJ1
Hilgartner, M1
Fuchs, F1
Tada, K2
Wada, Y1
Arakawa, T2
Braunshteĭn, AE1
Zhao, G1
Winkler, ME1
Rych, K1
Pascal, TA2
Gaull, GE3
Beratis, NG3
Gillam, BM2
Tallan, HH3
Hirschhorn, K2
Tanase, S1
Morino, Y1
Terasaki, T1
Yamatogi, Y1
Ohtahara, S1
Miyake, S1
Iyoda, K1
Narusawa, K1
Kint, JA1
Carton, D1
Fleisher, LD1
Andelman, RJ2
George, WF2
Yokoyama, Y1
Nakagawa, H1
Yoshida, T1
Finkelstein, JD1
Mudd, SH1
Irreverre, F1
Laster, L1
Perry, TL1
Hansen, S1
Love, D1
Finch, CA1
Rosenberg, LE1
Lilljeqvist, A1
Hsia, YE1

Reviews

5 reviews available for pyridoxal phosphate and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Inherited Disorders of Lysine Metabolism: A Review.
    The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B

2020
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
    Orphanet journal of rare diseases, 2017, 01-18, Volume: 12, Issue:1

    Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Cholinergi

2017
Clinical aspects of the disorders of GABA metabolism in children.
    Current opinion in neurology, 2004, Volume: 17, Issue:2

    Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain;

2004
[Clinical significance of amino acid transformations as affected by pyridoxal phosphate enzymes].
    Vestnik Akademii meditsinskikh nauk SSSR, 1982, Issue:9

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Animals; Arteriosclerosis

1982
Vitamin B6-dependency syndromes. New horizons in nutrition.
    The American journal of clinical nutrition, 1969, Volume: 22, Issue:6

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Anemia, Sideroblastic; Animals; Child;

1969

Other Studies

18 other studies available for pyridoxal phosphate and Amino Acid Metabolism Disorders, Inborn

ArticleYear
A novel pyrroline-5-carboxylic acid and acetoacetic acid adduct in hyperprolinaemia type II.
    Clinica chimica acta; international journal of clinical chemistry, 2003, Volume: 331, Issue:1-2

    Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Child; Female; Gas Chromatography-Mass Spectrom

2003
Cystathioninuria: management.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Child; Child, Preschool; C

1967
Hypervalinemia. Its metabolic lesion and therapeutic approach.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Chromatography, Paper; Diet Therapy;

1967
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.
    Journal of bacteriology, 1996, Volume: 178, Issue:1

    Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Enzyme I

1996
[Seesaw nystagmus: symptom of a biochemical disorder (author's transl)].
    Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology, 1977, Feb-23, Volume: 201, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Humans; Male; Neurologic Ma

1977
Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria.
    Pediatric research, 1978, Volume: 12, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Binding Sites, Antibody; Binding, Competitive; Cell L

1978
Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms.
    Science (New York, N.Y.), 1975, Dec-19, Volume: 190, Issue:4220

    Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cross Reactions; Cystathionine; Cystathionine gamma

1975
[Vitamin B6 dependency syndrome].
    Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Hu

1992
[A long-term follow-up study on a case with glycine encephalopathy].
    No to hattatsu = Brain and development, 1988, Volume: 20, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child, Preschool; Diazepam; Electro

1988
New evidence for the identity of homoserine deaminase and cystathionase in human liver.
    Archives internationales de physiologie et de biochimie, 1971, Volume: 79, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Child; Colorimetry; Cysteine; Humans; Hydro-Ly

1971
Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
    Biochemical and biophysical research communications, 1973, Nov-01, Volume: 55, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Cells, Cultured; Fibroblasts; Heterozygote; Homocystei

1973
Cystathioninuria and B6 dependency.
    Annals of the New York Academy of Sciences, 1969, Sep-30, Volume: 166, Issue:1

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Child; Child, Prescho

1969
Vitamin B6 dependent xanthurenic aciduria.
    The Tohoku journal of experimental medicine, 1967, Volume: 93, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aspartate Aminotransferases; Autoanalysis;

1967
Cystathioninuria.
    American journal of diseases of children (1960), 1968, Volume: 115, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Hydro-Lyases; Pyridoxal Phosphate; Pyrido

1968
Pyridoxine (B6) dependency syndromes.
    Annals of internal medicine, 1968, Volume: 68, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Pyridoxal Phosphate; Pyridoxine

1968
N-acetylcystathionine: a new urinary amino-acid in congenital cystathioninuria.
    Nature, 1968, Jul-13, Volume: 219, Issue:5150

    Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chemistry, Clinical; Child; Chromatography, Ion

1968
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
Cystathioninuria: nature of the defect.
    Science (New York, N.Y.), 1965, Sep-03, Volume: 149, Issue:3688

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystine; Humans; Hydro-Lyases; In Vit

1965