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  • Title: [Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].
    Author: Clamadieu C, Cottin X, Rousselle C, Claris O.
    Journal: Arch Pediatr; 2008 Feb; 15(2):135-8. PubMed ID: 18201882.
    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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