Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

J Pediatr. 2001 Feb;138(2):277-9. doi: 10.1067/mpd.2001.110303.

Abstract

A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / diet therapy
  • Brain Diseases, Metabolic, Inborn / therapy*
  • Glutarates / metabolism*
  • Glutaryl-CoA Dehydrogenase
  • Homozygote
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / diet therapy
  • Metabolism, Inborn Errors / therapy*
  • Oxidoreductases / deficiency*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Treatment Outcome

Substances

  • Glutarates
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase