title: Glutathione synthetase deficiency: a family report.
abstract: 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.
authors.affiliation: Department of Paediatrics, St Mary's Hospital, Newport, UK.
authors.forename: R K
authors.initials: RK
authors.lastname: Pejaver
authors.forename: A H
authors.initials: AH
authors.lastname: Watson
mesh_terms: D000138:Acidosis / Q000201:enzymology; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D005981:Glutathione Synthase / Q000172:deficiency*; D006461:Hemolysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine
chemical_list: D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid