title: Isolated sulfite oxidase deficiency.
abstract: BACKGROUND
  Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature.
  
  
  METHODS
  We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing.
  
  
  CONCLUSIONS
  We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It's also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it's also possible carrying out DNA mutational analysis.
authors.forename: B
authors.initials: B
authors.lastname: Relinque
authors.forename: L
authors.initials: L
authors.lastname: Bardallo
authors.forename: M
authors.initials: M
authors.lastname: Granero
authors.forename: P J
authors.initials: PJ
authors.lastname: Jiménez
authors.forename: S
authors.initials: S
authors.lastname: Luna
keywords: Sulfite oxidase deficiency; neonatal; refractory seizures