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

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.

• Authors: C Clamadieu, X Cottin, C Rousselle, O Claris
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 15 Issue 2 Pg. 135-8 (Feb 2008) ISSN: 0929-693X [Print] France
• Vernacular Title: Déficit en adénylosuccinate lyase à révélation néonatale.
• PMID: 18201882 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Anticonvulsants
• Adenylosuccinate Lyase

Topics

• Adenylosuccinate Lyase (deficiency, genetics)
• Age Factors
• Anticonvulsants (therapeutic use)
• Brain Diseases, Metabolic, Inborn (diagnosis, enzymology, mortality)
• Epilepsy (drug therapy, enzymology, etiology)
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Magnetic Resonance Imaging
• Male
• Seizures (drug therapy, enzymology, etiology)