European Journal of Pediatrics

, Volume 145, Issue 5, pp 403–405 | Cite as

Glutaric aciduria type 1: biochemical investigations and postmortem findings

  • M. J. Bennett
  • N. Marlow
  • R. J. Pollitt
  • J. K. H. Wales
Original Investigations


Glutaric aciduria type 1 (GA1; deficiency of glutaryl — CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant. Despite a good biochemical response to dietary reduction of lysine and tryptophan, there was no clinical response to diet nor to riboflavin therapy and her neurological condition deteriorated progressively until her death at 10.5 months. At postmortem examination only mild neuropathological abnormalities were found in contrast to previous reports of this condition. High levels of glutarate were found in liver, skeletal muscle, heart muscle and aqueous humor. Eye fluid which is readily available, may be a useful material for the postmortem diagnosis of this, and other organic acidurias when urine is not available.

Key words

Glutaric aciduria type 1 Organic aciduria Lysine Tryptophan Neurodegenerative disorders 



glutaric aciduria type 1


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Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • M. J. Bennett
    • 1
  • N. Marlow
    • 2
  • R. J. Pollitt
    • 3
  • J. K. H. Wales
    • 2
  1. 1.Department of Chemical PathologyChildren's HospitalSheffieldUK
  2. 2.Department of PaediatricsChildren's HospitalSheffieldUK
  3. 3.University Department of PsychiatryMiddlewood HospitalSheffieldUK

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