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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

Abstract

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 

Abbreviations

GA1

glutaric aciduria type 1

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References

  1. 1.
    Bennett MJ, Curnock DA, Engel PC, Shaw L, Gray RGF, Hull D, Patrick AD, Pollitt RJ (1984) Glutaric aciduria Type II: biochemical investigation and treatment of a child diagnosed prenatally. J Inherited Metab Dis 7:57–61Google Scholar
  2. 2.
    Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K (1978) Glutaric aciduria in progressive choreo-athetosis. Clin Genet 13:77–80Google Scholar
  3. 3.
    Chalmers RA, Edwards T, Losty H, Westwood A (1984) The diagnosis and management of a case of glutaric aciduria Type 1 presenting in early infancy. 22nd. Symp. Society for the Study of Inborn Errors of Metabolism. A26Google Scholar
  4. 4.
    Christensen E, Brandt NJ (1978) Studies on glutaryl — CoA dehydrogenase in leukocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. Clin Chim Acta 88:267–276Google Scholar
  5. 5.
    Dunger DB, Snodgrass GJAT (1984) Glutaric aciduria Type 1, presenting with hypoglycaemia. J Inherited Metab Dis 7:122–124Google Scholar
  6. 6.
    Floret D, Divry P, Dingeon N, Monnet P (1979) Aciduria glutarique: une nouvelle observation. Arch Fr Pediatr 36:462–470Google Scholar
  7. 7.
    Goodman SI, Markey SP (1981) Diagnosis of organic acidemias by gas chromatography-mass spectrometry. Alan R. Liss, New YorkGoogle Scholar
  8. 8.
    Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975) Glutaric aciduria: a new disorder of amino acid metabolism. Biochem Med 12:12–21Google Scholar
  9. 9.
    Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: biochemical and morphologic consideration. J Pediatr 90:746–750Google Scholar
  10. 10.
    Goodman SI, Gallegos DA, Pullin CJ, Halpern B, Truscott RJW, Wise G, Wilcken B, Ryan ED, Whelan DT (1980) Ante-natal diagnosis of glutaric aciduria. Am J Hum Genet 32:695–699Google Scholar
  11. 11.
    Gregersen N, Brandt NJ, Christensen E, Gron I, Rasmussen K, Brandt S (1977) Glutaric aciduria: clinical and laboratory findings in two brothers. J Pediatr 90:740–745Google Scholar
  12. 12.
    Kyllerman M, Steen G (1977) Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropediatrie 8:397–404Google Scholar
  13. 13.
    Leibel RL, Shih VE, Goodman SI, Banman ML, McCabe ERB, Zwerdling RG, Bergman I, Costello C (1980) Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 30:1163–1168Google Scholar
  14. 14.
    Stutchfield P, Edwards MA, Gray RGF, Crawley P, Green A (1985) Genetic disease is easily missed. Glutaric aciduria type 1 misdiagnosed as Leigh's encephalopathy and cerebral palsy. Dev Med Child Neurol 27:514–521Google Scholar
  15. 15.
    Whelan DT, Hill R, Ryan ED, Spate M (1980) l-Glutaric aciduria. Investigation of a patient and his family. Pediatrics 63:88–93Google Scholar

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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