title: [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.affiliation: Service de néonatologie, centre hospitalier Lyon-Sud, 69495 Pierre-Bénite cedex, France. catherine.clamadieu@chu-lyon.fr
authors.forename: C
authors.initials: C
authors.lastname: Clamadieu
authors.forename: X
authors.initials: X
authors.lastname: Cottin
authors.forename: C
authors.initials: C
authors.lastname: Rousselle
authors.forename: O
authors.initials: O
authors.lastname: Claris
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000235:genetics; D000367:Age Factors; D000927:Anticonvulsants / Q000627:therapeutic use; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000201:enzymology* / Q000401:mortality; D004827:Epilepsy / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology
chemical_list: D000927:Anticonvulsants; D000264:Adenylosuccinate Lyase