Glutathione synthetase deficiency: a family report.
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.
Pejaver
R K
RK
Department of Paediatrics, St Mary's Hospital, Newport, UK.
Watson
A H
AH
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
D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid