Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency

The Journal of Clinical Investigation
E BeutlerC Pegelow


Glutathione synthetase (GSH-S) is one of the two known hereditary causes of glutathione deficiency. We describe a family whose two children have hemolytic anemia. The children's erythrocytes lack GSH and are severely deficient in GSH-S activity. No neurologic findings or 5-oxoprolinuria were present. A concurrent deficiency of glutathione-S-transferase (GST) was also detected in the erythrocytes. Residual glutathione could be detected in the erythrocytes using a sensitive cycling assay. The deficiency was found to be most severe in reticulocyte-depleted preparations. The GSH-S activity of the erythrocytes of the parents was one-half normal, while the glutathione S-transferase activity was normal. We conclude that the primary defect is one of GSH-S. Glutathione stabilizes GST in vitro, and it is assumed that the deficiency of GST in the erythrocytes of the patients is due to the instability of this enzyme in the absence of adequate intracellular GSH levels.


Aug 19, 1976·The New England Journal of Medicine·E Beutler
Oct 25, 1979·The New England Journal of Medicine·L A BoxerJ D Schulman
Jun 1, 1978·The Journal of Clinical Investigation·S P SpielbergJ D Schulman
Aug 1, 1977·The Journal of Pediatrics·S P SpielbergJ D Schulman
Jun 1, 1974·Proceedings of the National Academy of Sciences of the United States of America·V P WellnerA Larsson
Jan 1, 1974·Acta paediatrica Scandinavica·L HagenfeldtR Zetterström
Mar 16, 1972·The New England Journal of Medicine·P N KonradD E Paglia
Nov 6, 1969·Biochemical and Biophysical Research Communications·N S KosowerW S Correa
Dec 3, 1970·The New England Journal of Medicine·D N MohlerM D Garrick
Dec 1, 1970·Scandinavian Journal of Clinical and Laboratory Investigation·E JellumL Eldjarn
Sep 1, 1984·Analytical Biochemistry·G F Seelig, A Meister
Jun 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·E Beutler
Jan 1, 1980·American Journal of Hematology·L VettoreP Zampini


Jul 15, 1986·Clinica Chimica Acta; International Journal of Clinical Chemistry·E Beutler, T Gelbart
Jun 1, 1989·Mechanisms of Ageing and Development·S Laganiere, B P Yu
Jun 29, 2005·Acta Paediatrica·Runa Njålsson, Svante Norgren
Oct 29, 2003·Antioxidants & Redox Signaling·Rui-Ming Liu, Dale A Dickinson
Nov 23, 2006·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·W B MattesD L Mendrick
Feb 21, 2006·European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences·Shi-long ZhongMin Huang
Jul 29, 1998·Chemico-biological Interactions·E Ristoff, A Larsson
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·G Jacobasch
Mar 1, 1989·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·T D Boyer
Jul 16, 2010·American Journal of Physiology. Cell Physiology·Mehrdad GhashghaeiniaKamran Ghoreschi
Dec 4, 2019·Clinical and Experimental Pharmacology & Physiology·Raushan KumarSyed Ibrahim Rizvi
May 13, 2020·Archives of Physiology and Biochemistry·Shambhoo Sharan TripathiSyed Ibrahim Rizvi
Aug 13, 2009·Molecular Biology Reports·Marie UchidaHisashi Hisatomi
Jan 1, 2014·3 Biotech·Mathews V VargheseR Harikumaran Nair

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Microangiopathic Hemolytic Anemia
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