Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.
Arch Dis Child Fetal Neonatal Ed
; 93(2): F151-2, 2008 Mar.
Article
em En
| MEDLINE
| ID: mdl-18296573
ABSTRACT
Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfato de Piridoxal
/
Piridoxaminafosfato Oxidase
/
Encefalopatias
/
Análise Mutacional de DNA
/
Epilepsia
/
Mutação
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article