Pyridoxine responsive epilepsy: expanded pyridoxine dependency?

Pyridoxine responsive epilepsy: expanded pyridoxine dependency?

Pyridoxine-dependent epilepsy initially responsive to phenobarbital.

Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were charact...

Pyridoxine-responsive anemia.

SI NCE THE ORIGINAL report by Harris et al.' in 1956, six additional I)ttients with anemia responsive to the administration of pyrinioxine have been described.27 With the exception of the case reported by Maier,2 tile features which have been common to this group of patients hiave I)een micro-cytic, hypochromic anemia, hyperferremia, hemosidlerosis and a partial or complete response of the anem...

Pyridoxine-Dependent Epilepsy

A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...

Pyridoxine-responsive anemia: influence of tryptophan on pyridoxine responsiveness.

This study presents evidence that the indolic amino acid, tryptophan, critically influences pyridoxine responsiveness in a patient with pyridoxine-responsive anemia. Continuing observations for 18 yr on this now 54-yr-old white man have shown responsiveness to oral crude liver extract and to pyridoxine. In addition, remissions of 8-mo duration followed oral administration of fractions of liver ...