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J R Soc Med. 1994 March; 87(3): 171.
PMCID: PMC1294405

Glutathione synthetase deficiency: a family report.


Glutathione synthetase deficiency is a rare inborn error of metabolism. Low levels of and at times unstable molecules of glutathione synthetase leads to glutathione deficiency affecting various systems of the body. The inheritance is thought to be of autosomal recessive variety. We diagnosed the condition in a neonate and proceeded to investigate the family. The results are discussed below.

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Selected References

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  • Pejaver RK, Watson AH. 5-Oxoprolinuria due to glutathione synthetase deficiency. J Inherit Metab Dis. 1992;15(6):937–938. [PubMed]
  • Larsson A, Zetterström R, Hörnell H, Porath U. Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes. Clin Chim Acta. 1976 Nov 15;73(1):19–23. [PubMed]
  • Mohler DN, Majerus PW, Minnich V, Hess CE, Garrick MD. Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. N Engl J Med. 1970 Dec 3;283(23):1253–1257. [PubMed]
  • Spielberg SP, Garrick MD, Corash LM, Butler JD, Tietze F, Rogers L, Schulman JD. Biochemical heterogeneity in glutathione synthetase deficiency. J Clin Invest. 1978 Jun;61(6):1417–1420. [PMC free article] [PubMed]

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