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Glutathione synthetase deficiency.
Njålsson R. Njålsson R. Cell Mol Life Sci. 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. Cell Mol Life Sci. 2005. PMID: 15990954 Review.
Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessively, and patients with th …
Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last …
Patients with genetic defects in the gamma-glutamyl cycle.
Ristoff E, Larsson A. Ristoff E, et al. Chem Biol Interact. 1998 Apr 24;111-112:113-21. doi: 10.1016/s0009-2797(97)00155-5. Chem Biol Interact. 1998. PMID: 9679548 Review.
Therapeutic trials with GSH analogues, N-acetylcysteine and GSH esters have been carried out. Glutathione synthetase deficiency restricted to erythrocytes results in hemolytic anemia but no 5-oxoprolinuria. gamma-Glutamyl transpeptidase deficiency is associat …
Therapeutic trials with GSH analogues, N-acetylcysteine and GSH esters have been carried out. Glutathione synthetase defici …
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.
In man, hereditary deficiencies have been found in five of the six enzymes. Glutathione synthetase deficiency is the most frequently recognized disorder and, in its severe form, it is associated with hemolytic anemia, metabolic acidosis, 5-oxoprolinuria, cent …
In man, hereditary deficiencies have been found in five of the six enzymes. Glutathione synthetase deficiency is the mo …
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E. Corrons JL, et al. Br J Haematol. 2001 Feb;112(2):475-82. doi: 10.1046/j.1365-2141.2001.02526.x. Br J Haematol. 2001. PMID: 11167850 Free article. Review.
The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy. Two cases exhibited a well-compensated haemolytic syndrome without anaemia or sp …
The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosoma …