5-Oxoprolinuria due to glutathione synthetase deficiency.
Pejaver
R K
RK
Department of Paediatrics, St Mary's Hospital, Newport, Isle of Wight, UK.
Watson
A H
AH
D000138:Acidosis / Q000097:blood; D004912:Erythrocytes / Q000737:chemistry / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000737:chemistry / Q000378:metabolism; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*; D015656:Respiratory Mechanics
D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid