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.
PejaverRKWatsonAH. 5-oxoprolinura due to glutathione synthetase deficiency. J Inher Metab Dis1992;15:937–8.
2.
MeisterALarssonA. Glutathione synthetase deficiency and other disorders of the α-glutamyl cycle. In: ScriverCB, eds. The Metabolic Basis of Inherited Disease, 6th edn.New York: McGraw-Hill, 1989.
3.
LarssonAZetterstormRHornellHPorathU. Erythrocyte glutathione synthetase in 5-oxoprolinuria. Kinetic studies of the mutant enzyme and detection of heterozygotes. Clin Chim Acta1976;73:19.
4.
MohlerDNMarjerusPWMinnichVHessCEGarrickMD. Glutathione synthetase deficiency as a cause of hereditary haemolytic disease. N Engl J Med1970;283:1253.
5.
SpielbergSPGarrickMDCorashLMButlerJ DeBTietzeFGorgersLVBiochemical heterogenicity in glutathione synthetase deficiency. J Clin Invest1978;61:1417.
