title: Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.
abstract: Investigation of a psychomotorically retarded girl showed excretion of abnormal amounts of alpha-ketoadipic acid, alpha-hydroxyadipic acid, alpha-aminoadipic acid, 1,2-butenedicarboxylic acid and elevation of plasma alpha-aminoadipic acid levels.  The identity of these metabolities was established by various methods.  The excretion of alpha-aminoadipic acid correlated to the lysine intake.  Degradation studies with cultured fibroblasts indicate a defect in the oxidative decarboxylation of alpha-ketoadipic acid (see Clin. Chim. Acta, 58 (1975) 271.
mesh_terms: D000272:Adipates / Q000097:blood / Q000652:urine*; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood*; D000596:Amino Acids / Q000097:blood; D003998:Dicarboxylic Acids / Q000652:urine; D005260:Female; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007223:Infant; D007231:Infant, Newborn; D007651:Keto Acids / Q000652:urine*; D008239:Lysine / Q000378:metabolism*; D008297:Male
chemical_list: D000272:Adipates; D000596:Amino Acids; D003998:Dicarboxylic Acids; D006880:Hydroxy Acids; D007651:Keto Acids; D008239:Lysine