Adenylosuccinase deficiency presenting with epilepsy in early infancy

J Inherit Metab Dis. 1997 Aug;20(4):606-7. doi: 10.1023/a:1005323512982.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Epilepsy, Generalized / drug therapy
  • Epilepsy, Generalized / etiology*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Phenobarbital / therapeutic use
  • Purine-Pyrimidine Metabolism, Inborn Errors / complications
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology*

Substances

  • Anticonvulsants
  • Phenobarbital