Hundreds of distinct epilepsy-causing genes have been identified.1 The vitamin B6-dependent epilepsies are a heterogeneous group genetic disorders due to incomplete formation, transport, or inactivation pyridoxal 5′-phosphate (PLP).2 ALDH7A1 , PNPO ALPL ALDH4A1 and more recently PLPBP implicated.3 Characteristic presentation includes neonatal onset encephalopathy seizures refractory first-line ...

Radhika Dhamija, MD Brian D. Moseley, MD Elaine C. Wirrell, MD SECTION 1 A 10-month-old boy was transferred to our facility for workup and treatment of myoclonic status epilepticus. He was product of a healthy term pregnancy, born to nonconsanguineous parents, and was developmentally normal until the onset of myoclonic seizures at 8 months. Following this, developmental regression was noted. Hi...

Increased synthesis of ornithine aminotransferase [EC 2.6.1.13] (OAT) in the kidney of pyridoxine-deficient rats has been reported previously (Ikeda, M. and Okada, M. (1985): J. Nutr. Sci. Vitaminol., 31, 553-561). In this report the effects of 3,3',5'-triiodothyronine (T3) and estradiol on OAT activity in the kidney of rats given pyridoxine-deficient and control diets were studied. T3 induced ...

Isoniazid-induced deficiency of pyridoxine (vitamin B6) is reportedly not uncommon in adults but rare in children. In the present study, 38 children had serum levels of pyridoxine tested while receiving therapy with isoniazid. A biologic assay using the protozoan Tetrahymena thermophila determined pyridoxine status after 2 to 18 months of therapy with isoniazid. Five children (13 percent) were ...

Some electrographic seizures are generated intracortically. The cellular and ionic bases of cortically generated spontaneous seizures are not fully understood. Here we investigated spontaneously occurring seizures consisting of spike-wave complexes intermingled with fast runs in ketamine-xylazine anesthetized cats, using dual intracellular recordings in which one pipette contained a control sol...

When isonicotinic acid hydrazide (INH) was first used for therapy of tuberculosis many patients developed peripheral neuritis resembling that of pyridoxine deficiency. Such patients exhibited increased urinary excretion of pyridoxine; administration of pyridoxine prevented the neuritis (1). In vitro studies have confirmed that INH inhibits pyridoxinedependent bacterial decarboxylases and transa...

An experiment was conducted to investigate the effect of dietary pyridoxine on the gene expression of appetite-regulating peptides in the hypothalamus and gastrointestinal tract of rabbits. Thirty-two rabbits were randomly divided into 2 treatments for 8 weeks (16 replicates/group and 1 rabbit/replicate). The treatments were fed a basal diet (control, measured pyridoxine content is 4.51 mg/kg) ...

Recently we have encountered an infant of formiminotransferase deficiency syndrome associated with megaloblastic pyridoxine responsive anemia of congenital origin.1 In 1966 Vitale et al.2 reported that formiminotransferase activity of the liver was markedly decreased in rats with iron deficiency and suggested a possibility of requirement of iron for function and/or formation of formiminotransfe...

In the course of studying tryptophan metabolism in magnesium deficient rats, we noted that the magnesium deficiency state seemed to be accelerated in rats receiving higher than normal levels of pyridoxine in the diet. In these metabolic studies, animals which received 20 times the normal pyridoxine level in their diet had a definitely higher mortality rate than the magnesium deficint animals ma...