Epileptic seizures in aspartylglucosaminuria: a common disorder

Acta Neurol Scand. 1993 May;87(5):342-4. doi: 10.1111/j.1600-0404.1993.tb04114.x.

Abstract

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with reduced life-span. An analysis of 121 Finnish patients showed that 22 to 78 adults (28%) and one of 43 children (2%) had epileptic seizures. Twelve patients had the onset of attacks after the age of 30 years. Eleven patients had generalized, nine partial and three unclassified seizures. The response to carbamazepine was good. The major interictal EEG abnormality was the attenuation of the amplitude found in 10/27 patients. The brain CT-scans showed diffuse atrophy in 8/11 patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine
  • Adolescent
  • Adult
  • Anticonvulsants / therapeutic use
  • Cerebral Cortex / drug effects
  • Cerebral Cortex / physiopathology
  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Dose-Response Relationship, Drug
  • Electroencephalography / drug effects
  • Epilepsies, Partial / drug therapy
  • Epilepsies, Partial / genetics*
  • Epilepsies, Partial / physiopathology
  • Evoked Potentials / drug effects
  • Female
  • Follow-Up Studies
  • Genes, Recessive / genetics
  • Humans
  • Lysosomal Storage Diseases / drug therapy
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / physiopathology
  • Male
  • Middle Aged
  • Neuropsychological Tests

Substances

  • Anticonvulsants
  • N-acetylglucosaminylasparagine
  • Acetylglucosamine