Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
C ClamadieuO Claris

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.

References

Apr 1, 1997·Pediatric Neurology·D ValikJ D Jones
Apr 29, 1998·Neuropediatrics·F A van den BerghB Tien Poll-The
Mar 4, 2000·Prenatal Diagnosis·S MarieG Van den Berghe
Mar 22, 2000·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·M KöhlerG F Hoffmann
Aug 25, 2000·Human Molecular Genetics·V RaceG Van den Berghe
Jun 19, 2002·Journal of Medical Genetics·M Holder-EspinasseV Cormier-Daire
Jul 2, 2003·American Journal of Medical Genetics. Part a·Patrick EderyMarc Tardieu
Dec 14, 2005·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·N Bahi-BuissonI Desguerre
Jul 15, 2006·Molecular Genetics and Metabolism·Erin K SpiegelDavid Patterson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Biosynthetic Transformations

Biosyntheic transformtions are multi-step, enzyme-catalyzed processes where substrates are converted into more complex products in living organisms. Simple compounds are modified, converted into other compounds, or joined together to form macromolecules. Discover the latest research on biosynthetic transformations here.

Related Papers

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Belén Pérez-DueñasRafael Artuch
© 2021 Meta ULC. All rights reserved