Complexities of pyridoxine response in PNPO deficiency
Epilepsy & Behavior Reports, 2021 Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus.
Rajni Farmania +4 more
doaj +1 more source
Effects of Pyridoxine on Growth Performance and Plasma Aminotransferases and Homocysteine of White Pekin Ducks [PDF]
Asian-Australasian Journal of Animal Sciences, 2014 A dose-response experiment with seven supplemental pyridoxine levels (0, 0.66, 1.32, 1.98, 2.64, 3.30, and 3.96 mg/kg) was conducted to investigate the effects of pyridoxine on growth performance and plasma aminotransferases and homocysteine of White ...
Ming Xie +4 more
doaj +1 more source
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review
Children, 2023 Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo +5 more
doaj +1 more source
BMC Ophthalmology, 2021 Background Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications.
Ning Hua +6 more
doaj +1 more source
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
core +1 more source
Proteomic analysis of magnesium-dependent proteins and children’s health
Медицинский совет, 2017 Systems biology analysis of over 700 magnesium-dependent proteins in human proteome shown that these proteins affect (1) the embryonic development, (2) energy metabolism, (3) signal transduction processes from receptors, (4) neurological function, (5 ...
O. A. Gromova +2 more
doaj +3 more sources
Toward eradication of B-vitamin deficiencies : considerations for crop biofortification [PDF]
, 2018 'Hidden hunger' involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world ...
Strobbe, Simon +1 more
core +3 more sources
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +1 more source
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
Molecular Genetics and Metabolism Reports, 2016 We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger +6 more
doaj +1 more source
Glutamate carboxypeptidase II inhibition behaviorally and physiologically improves pyridoxine-induced neuropathy in rats. [PDF]
PLoS ONE, 2014 Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism.
Michelle C Potter +3 more
doaj +1 more source