[A family with pyroglutamic aciduria (author's transl)].
D000085:Acetates / Q000097:blood; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D005981:Glutathione Synthase / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008268:Macular Degeneration / Q000209:etiology; D008297:Male; D011760:Pyrrolidinones / Q000652:urine*; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*; D000608:Renal Aminoacidurias / Q000150:complications / Q000235:genetics*
D000085:Acetates; D011760:Pyrrolidinones; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid
Eine Familie mit Pyroglutaminacidurie.