References
Boivin, P., Saudubray, J. M., Pousset, J. L. and Galand, C. Glutathione synthetase deficiency and pyroglutamic aciduria.International Society of Haematology, Third Meeting of the European and African Division, London, 1975, Abstract nos. 1–20
Boivin, P., Galand, C. and Schaison, G. Déficit en glutathion-synthétase avec 5-oxoprolinurie, deux nouveaux cas et revue de la littérature.Nouv. Press. Méd. 7 (1978) 1531–1535
Carpenter, K., Bonham, J., Worthy, E., O'Connor, N., Gilbert, J., Primhak, R., Smith, M. Fatal neonatal pyroglutamic aciduria.Abstracts of the 28th Symposium of the SSIEM, Birmingham, September 1990, p. 28
Caruso, U., Romano, C., Cerone, R., Patrone, P., Perfumo, F., Schiaffino, M. C. and Gusmano, R. Pyroglutamic aciduria (5-oxoprolinuria): report of a new case.Fifth International Congress on Inborn Errors of Metabolism, Asilomar, June 1990, p. 8
Jellum, E., Kluge, T., Börresen, H. C., Stokke, O. and Eldjarn, L. Pyroglutamic aciduria — a new inborn error of metabolism.Scand. J. Clin. Lab. Invest. 26 (1970) 327–335
Larsson, A., Zetterström, R., Hagenfeldt, L., Andersson, R., Dreborg, S. and Hörnell, H. Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism.Pediatr. Res. 8 (1974) 852–856
Larsson, A., Zetterström, R., Hörnell, H. and Porath, U. Erythrocyte glutathione synthetase in 5-oxoprolinuria: Kinetic studies of the mutant enzyme and detection of heterozygotes.Clin. Chim. Acta 73 (1976) 19–23
Larsson, A., Mattsson, B., Wauters, E. A. K., Van Gool, J. D., Duran, M. and Wadman, S. K. 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers — a new inborn error of the γ-glutamyl cycle.Acta Pediatr. Scand. 70 (1981) 301–308
Mendelson, I. S., Christie, E., Zaleski, W. A., Mackensie, S. L., Wellner, V. P. and Meister, A. Neonatal 5-oxoprolinuria: difficult to diagnose?J. Inher. Metab. Dis. 6 (1983) 44–48
Prchal, J. T., Crist, W. M., Roper, M. and Wellner, V. P. Hemolytic anemia, recurrent metabolic acidosis, and incomplete abinism associated with glutathione sythetase deficiency.Blood 4 (1983) 754–757
Spielberg, S. P., Kramer, L.I., Goodman, S. I., Butler, J., Tietze, F., Quinn, P. and Schulman, J. D. 5-Oxoprolinuria: biochemical and case report.J. Pediatr. 91 (1977) 237–241
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Divry, P., Roulaud-Parrot, F., Dorche, C. et al. 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis 14, 341–344 (1991). https://doi.org/10.1007/BF01811698
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DOI: https://doi.org/10.1007/BF01811698