Glutaric aciduria type I: outcome in the Republic of Ireland

J Inherit Metab Dis. 2004;27(6):917-20. doi: 10.1023/B:BOLI.0000045777.82784.74.

Abstract

Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral palsy, 10 were diagnosed following a high-risk screen. Seven of the 11 have no abnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors / epidemiology
  • Amino Acid Metabolism, Inborn Errors / mortality
  • Amino Acid Metabolism, Inborn Errors / therapy*
  • Brain Diseases / etiology
  • Brain Diseases / pathology
  • Child
  • Child, Preschool
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Infant
  • Ireland / epidemiology
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Mutation / physiology
  • Neostriatum / pathology
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Treatment Outcome

Substances

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