BACKGROUND Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Beside ne...

Previous communications from this laboratory (l-7) have demonstrated that swine maintained on a highly purified diet deficient in pyridoxine develop a severe anemia which is characterized by microcytosis, slight hypochromia, and an increase in polychromatophilia, reticulocytes, and nucleated red cells in the blood. There is a marked hyperferremia, normoblastic bone marrow hyperplasia, myelin de...

X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de no...

Large doses of pyridoxine cause injury to the primary sensory neurons in trigeminal and dorsal root ganglia of animals and patients subjected to megavitamin therapy. The increased hazard to subjects with reduced renal excretory function has been explored previously. In the present work, the neurotoxicity of pyridoxine for rats was found to be increased by dietary protein deficiency. A mere 3 or...

OBJECTIVE Pyridoxine-dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. MATERIALS AND METHODS EEG tracings from four patients fulfilling the clinical criteria for PDE were reviewed. Relative to the time of treatment with pyridoxine, EEG recordings were available b...

Preliminary studies of vitamin B6 metabolism in three adult domestic cats detected very little pyridoxic acid in the urine. At oral doses of 49 to 490 mumol of [14C]pyridoxine hydrochloride, 50% of the excreted dose occurred as pyridoxine 3-sulfate and 25% as N-methylpyridoxine. The identity of these two metabolites was confirmed by isolation from urine and comparison with known compounds. A th...

ATHEROSCLEROTIC plaques observed ,. in man and several species of animals characteristically contain large amounts of cholesterol, and numerous experimental and epidemiologic studies have demonstrated a relationship between serum cholesterol levels and the incidence of atherosclerosis. Pyridoxine (vitamin Bo) has been among the several agents considered effective in inhibiting the development o...

Antiemetic drugs can be used in complicated cases of vomiting secondary to gastroenteritis. There is no previous study dealing with the use of pyridoxine (Vitamin B6) in treatment of vomiting in pediatrics. This study intends to review the effects of intravenous pyridoxine on control of gastroenteritis related vomiting. This study is a single-blind randomized clinical trial with placebo. A tota...

Dempsey, Walter B. (University of Florida, Gainesville), and P. F. Pachler. Isolation and characterization of pyridoxine auxotrophs of Escherichia coli. J. Bacteriol. 91:642-645. 1966.-Pyridoxine auxotrophs of Escherichia coli B have been consistently produced by a modified penicillin enrichment method. This modified penicillin technique included a 6-hr growth period in the absence of any pyrid...

The contents of six vitamin B6 forms, pyridoxine-β-glucoside, and 4-pyridoxic acid in mature milk of 20 Japanese lactating women consuming ordinary Japanese foods were determined by a 4-pyridoxolactone-conversion HPLC method. These compounds were determined with the average recovery rate of 83.9% or more. The average total content of vitamin B6 forms was 1.01 ± 0.32 (µmol/L). Pyridoxal and pyri...