Pyridoxine-dependent Convulsions in an Infant

Garty, R; Yonis, Z; Braham, J.; Steinitz, K.

doi:10.1136/adc.37.191.21

Cited by 36 publications

(11 citation statements)

References 15 publications

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“…Most patients remained seizure-free on doses between 20 mg and 100 rag/day. Some patients did well with doses as low as 2-5 rag/day [6,16,27,33], whereas others required doses of 200 mg or 300 mg/day to remain seizure-free [7,9,10]. In 11 patients Age of diagnosis and treatment (days) Fig.…”

Section: Treatmentmentioning

confidence: 99%

Pyridoxine-dependent seizures, clinical and therapeutic aspects

1991

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Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. Treatment requires life-long supplementation with pyridoxine (vitamin B6). The underlying defect is unknown, and there is no biological marker for the disease. Clinical diagnosis is often delayed and severe neurological sequelae are common. This article summarizes both clinical and therapeutic aspects.

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Section: Treatmentmentioning

confidence: 99%

Pyridoxine-dependent seizures, clinical and therapeutic aspects

1991

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“…Pyridoxal is known to be important in central nervous system metabolism and pyridoxine responsive convulsions in infants are widely recognized (Hunt et al, 1954;Scriver, 1960;Deneve and Jongbloet, 1961;Garty et al, 1962;O'Brien and Jensen, 1963;Gentz et al, 1967). Some success in the treatment of epilepsy with pyridoxine has also been reported.…”

Section: Introductionmentioning

confidence: 99%

Serum Pyridoxal, Folate, and Vitamin B12 Levels in Institutionalized Epileptics

Davis¹,

Reed²,

Smith³

1975

Epilepsia

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Serum pyridoxal, folate, and vitamin B12 concentrations were measured in 68 institutionalized patients with severe epilepsy. Twenty-five patients had a reduced level of pyridoxal and thirty-three a reduced level of folate. There was no instance of a low serum vitamin B12 although in three patients the levels were found to be abnormally high. Fifteen patients had both a low serum pyridoxal and a low serum folate but there was no significant correlation. All patients had a normal hemoglobin concentration and a normal mean corpuscular volume. There was no close relationship between reduced serum vitamin levels and single or groups of anticonvulsant agents, although the size of the groups was too small to permit a detailed study.

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“…For the same reasons none of the patients we have studied represent the condition of pyridoxine dependency, in which amounts of pyridoxine greater than usual are required to prevent convulsions (Hunt, Stokes, McCrory, and Stroud, 1954;Bessey et al, 1957;Sokoloff, Lassen, McKhann, Tower, and Albers, 1959;Marie, Hennequet, Lyon, Debris and Le Balle, 1959;Scriver, 1960;Garty, Yonis, Braham, and Steinitz, 1962;Waldinger and Berg, 1963;Scriver and Hutchison, 1963). There are several alternative ways in which a relative deficiency ofpyridoxine might occur.…”

Section: Resultsmentioning

confidence: 99%