Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were noted. Also, severe recurrent metabolic acidosis and marked oxoprolinemia and oxoprolinuria were found in the proband but not in his first-degree relatives. The relationship of these disease manifestations to the underlying metabolic defect is discussed.
D000138:Acidosis / Q000150:complications*; D000417:Albinism / Q000150:complications* / Q000235:genetics; D000743:Anemia, Hemolytic / Q000150:complications*; D002478:Cells, Cultured; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005981:Glutathione Synthase / Q000172:deficiency*; D006098:Granulocytes / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D010453:Peptide Synthases / Q000172:deficiency*; D011761:Pyrrolidonecarboxylic Acid / Q000097:blood
D005954:Glucosephosphate Dehydrogenase; D010453:Peptide Synthases; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid