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

C Clamadieu; X Cottin; C Rousselle; O Claris

doi:10.1016/j.arcped.2007.08.028

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

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

[Article in French]

Authors

C Clamadieu¹, X Cottin, C Rousselle, O Claris

Affiliation

¹ Service de néonatologie, centre hospitalier Lyon-Sud, 69495 Pierre-Bénite cedex, France. catherine.clamadieu@chu-lyon.fr

PMID: 18201882
DOI: 10.1016/j.arcped.2007.08.028

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.

Publication types

Case Reports
English Abstract

MeSH terms

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

Substances

Anticonvulsants
Adenylosuccinate Lyase