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Case Reports
. 2008 Feb;15(2):135-8.
doi: 10.1016/j.arcped.2007.08.028. Epub 2008 Jan 16.

[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]

[Article in French]
C Clamadieu  1 , X Cottin, C Rousselle, O Claris
Affiliations
Case Reports

[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]

[Article in French]
C Clamadieu et al. Arch Pediatr. 2008 Feb.

Abstract

Adenylosuccinate lyase deficiency is an autosomal recessive inborn error of purine synthesis, which provokes epilepsy, psychomotor delay and/or autistic features. We report on two siblings with ADSL deficiency, who developed seizures on the first day of life. ADSL deficiency should be part of the screening to be performed in case of neonatal seizures.

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