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.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
Abbreviations
- GA1:
-
glutaric aciduria type 1
References
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 7:57–61
Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K (1978) Glutaric aciduria in progressive choreo-athetosis. Clin Genet 13:77–80
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. A26
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 88:267–276
Dunger DB, Snodgrass GJAT (1984) Glutaric aciduria Type 1, presenting with hypoglycaemia. J Inherited Metab Dis 7:122–124
Floret D, Divry P, Dingeon N, Monnet P (1979) Aciduria glutarique: une nouvelle observation. Arch Fr Pediatr 36:462–470
Goodman SI, Markey SP (1981) Diagnosis of organic acidemias by gas chromatography-mass spectrometry. Alan R. Liss, New York
Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975) Glutaric aciduria: a new disorder of amino acid metabolism. Biochem Med 12:12–21
Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: biochemical and morphologic consideration. J Pediatr 90:746–750
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 32:695–699
Gregersen N, Brandt NJ, Christensen E, Gron I, Rasmussen K, Brandt S (1977) Glutaric aciduria: clinical and laboratory findings in two brothers. J Pediatr 90:740–745
Kyllerman M, Steen G (1977) Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropediatrie 8:397–404
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 30:1163–1168
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 27:514–521
Whelan DT, Hill R, Ryan ED, Spate M (1980) l-Glutaric aciduria. Investigation of a patient and his family. Pediatrics 63:88–93
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bennett, M.J., Marlow, N., Pollitt, R.J. et al. Glutaric aciduria type 1: biochemical investigations and postmortem findings. Eur J Pediatr 145, 403–405 (1986). https://doi.org/10.1007/BF00439248
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00439248