نتایج جستجو برای: pyridoxine

تعداد نتایج: 1897  

Journal: :Nutrition reviews 1974
S Lepkovsky E Nielsen

While determining the bisulfite-binding substance of urine from pyridoxine-deficient rats and their paired pyridoxine-fed controls, E. J. Wickson, a student assistant, noticed that when slightly alkaline the urine of the pyridoxine-deficient rat, had a green color, making the iodometric titration in the determination of bisulfite-binding substances impossible. The green pigment was found only i...

2006
Robert Surtees Philippa Mills Peter Clayton

Vitamin B 6 is an important vitamin for normal brain function. The metabolism of dietary vitamin B 6 to its active cofactor pyridoxal 5´-phosphate is described. The mechanism of action of pyridoxal 5´-phosphate is described, as are some important functions in the brain. The clinical features and biochemistry of three inborn errors of metabolism affecting brain pyridoxal 5´-phosphate concentrati...

2014
Philippa B. Mills Stephane S.M. Camuzeaux Emma J. Footitt Kevin A. Mills Paul Gissen Laura Fisher Krishna B. Das Sophia M. Varadkar Sameer Zuberi Robert McWilliam Tommy Stödberg Barbara Plecko Matthias R. Baumgartner Oliver Maier Sophie Calvert Kate Riney Nicole I. Wolf John H. Livingston Pronab Bala Chantal F. Morel François Feillet Francesco Raimondi Ennio Del Giudice W. Kling Chong Matthew Pitt Peter T. Clayton

The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of th...

Journal: :Archives of disease in childhood 1967
M Bejsovec Z Kulenda E Ponca

Pyridoxine dependency is a relatively rare congenital metabolic disturbance. To date 16 patients have been reported who survived (Schmidt, 1964), and probably 7 of their sibs died because the disease was not recognized in time. The present report concerns the first cases observed in Czechoslovakia. Intrauterine convulsions are even rarer. Only two cases have been described (Badr-El-Din, 1960; I...

Journal: :Current treatment options in neurology 2015
Clara D M van Karnebeek Sravan Jaggumantri

OPINION STATEMENT Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no cl...

Journal: :Bioscience, biotechnology, and biochemistry 2003
Yasuhisa Asano Koichi Wada

Microorganisms from culture collections and isolates from nature were screened for the ability to catalyze the regioselective glucosylation of pyridoxine (PN) to produce pyridoxine 5'-alpha-D-glucoside (PN-5'-alpha-G) or pyridoxine 4'-alpha-D-glucoside (PN-4'-alpha-G). Transglucosylation activity specific to 5'-position of PN was found in fungi belonging to genera such as Coriolus and Verticill...

Journal: :Neurology 2015
Heather C Mefford Matthew Zemel Eileen Geraghty Joseph Cook Peter T Clayton Karl Paul Barbara Plecko Philippa B Mills Douglas R Nordli Sidney M Gospe

OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1. METHODS We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene. We performed array comparative genomic hybridization in 6 patients with clinical ...

2003
FRANCIS T. KENNEY

The role of pyridoxine and its coenzymically active derivatives in determining the stability of rat liver tyrosine cy-ketoglutarate transaminase in vifro and in vivo was studied. Incubation of crude or purified holoenzyme preparations with cysteine and other amino acids causes removal of the coenzyme and subsequent inactivation of the inherently unstable apoenzyme; under these conditions the re...

Journal: :Alcohol and alcoholism 2012
Peter Heese Michael Linnebank Alexander Semmler Marc A N Muschler Annemarie Heberlein Helge Frieling Birgit Stoffel-Wagner Johannes Kornhuber Markus Banger Stefan Bleich Thomas Hillemacher

AIMS Various studies have shown that plasma homocysteine (HCY) serum levels are elevated in actively drinking alcohol-dependent patients a during alcohol withdrawal, while rapidly declining during abstinence. Hyperhomocysteinemia has been associated not only with blood alcohol concentration (BAC), but also with deficiency of different B-vitamins, particularly folate, pyridoxine and cobalamin. ...

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