title: Human genetic defect in leukotriene C4 synthesis.
abstract: Normal human platelets metabolise [3H]-LTA4 into [3H]-LTC4. Platelets from patients with glutathione synthetase deficiency possessing 10-30% of normal levels of cellular glutathione showed marked reduction in capacity to form [3H]-LTC4 (8-10% of normal) even though exogenous reduced glutathione was added to the incubation medium. To our knowledge this is the first demonstration of a genetic defect in LTC4 synthetase coupled to a defect in cellular glutathione levels.
mesh_terms: D001095:Arachidonic Acids / Q000097:blood; D001792:Blood Platelets / Q000201:enzymology; D002648:Child; D005978:Glutathione / Q000378:metabolism*; D005981:Glutathione Synthase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D066298:In Vitro Techniques; D017572:Leukotriene A4; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D013189:SRS-A / Q000096:biosynthesis* / Q000235:genetics
chemical_list: D001095:Arachidonic Acids; D017572:Leukotriene A4; D013189:SRS-A; D005981:Glutathione Synthase; D005978:Glutathione