Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.
Our studies of a mentally retarded male with extremely elevated levels of alpha-aminoadipic acid and alpha-ketoadipic acid in his urine have led to the description of a new metabolic defect, alpha-ketoadipic aciduria. Analysis of the urine and serum from the patient's family revealed that the patient (KW) had a mentally and physically normal sister (CW) with the same metabolites elevated, but the rest of the family appeared normal.
D000272:Adipates / Q000652:urine*; D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000145:classification / Q000652:urine*; D006801:Humans; D008607:Intellectual Disability / Q000652:urine*; D007651:Keto Acids / Q000652:urine; D008239:Lysine / Q000378:metabolism*; D008297:Male; D014364:Tryptophan / Q000378:metabolism*
D000272:Adipates; D007651:Keto Acids; D014364:Tryptophan; D008239:Lysine