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Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.

Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997:193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic features. Diagnosis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acquired microcephaly and severe psychomotor retardation, as the most prominent symptoms.

Pubmed ID: 11042421


  • Nassogne M
  • Henrot B
  • Aubert G
  • Bonnier C
  • Marie S
  • Saint-Martin C
  • Van den Berghe G
  • S├ębire G
  • Vincent M


Brain & development

Publication Data

September 1, 2000

Associated Grants


Mesh Terms

  • Adenylosuccinate Lyase
  • Age of Onset
  • Brain
  • Brain Diseases, Metabolic, Inborn
  • Child, Preschool
  • Disease Progression
  • Electroencephalography
  • Epilepsy
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Microcephaly