title: Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency.
abstract: A 32-year-old man with glutathione synthetase deficiency developing an acute metabolic crisis is described. During this acute episode, intracellular glutathione content in erythrocytes was below the detection limit (<0.3 mmol/L). Leukotriene C4 in CSF and urinary leukotriene E4 were massively decreased, indicating an imparied synthesis of cysteinyl leukotrienes. Clinical recovery after one week was accompanied by a clear improvement of these biochemical parameters. The highly disturbed glutathione synthesis is postulated to be the reason for a deficient synthesis of cysteinyl leukotrienes, which may at least in part be responsible for the severe clinical symptoms.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Düsseldorf, Germany. mayatepek@uni-dusseldorf.de
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: T
authors.initials: T
authors.lastname: Meissner
authors.forename: H
authors.initials: H
authors.lastname: Gröbe
mesh_terms: D000208:Acute Disease; D000328:Adult; D005978:Glutathione / Q000172:deficiency*; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D017997:Leukotriene C4 / Q000134:cerebrospinal fluid* / Q000172:deficiency; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism*
chemical_list: D017997:Leukotriene C4; D005981:Glutathione Synthase; D005978:Glutathione