Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.
7,8-Dihydroxanthopterin in identified in urine from phenylketonuria and lethal hyperphenylalaninemia patients. Because 7,8-dihyroxanthopterin is readily oxidised to xanthopterin, most of the characterisation was performed on xanthopterin. This finding indicates a gross disturbance of tetrahydrobiopterin metabolism in these patients. 7,8-dihydroxanthopterin or a related pterin may play a role in the pathogenesis of neurological symptoms in phenylketonuria and lethal hyperphenylalaninemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D004586:Electrophoresis; D006801:Humans; D008727:Methotrexate / Q000627:therapeutic use; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000188:drug therapy / Q000652:urine*; D011622:Pterins / Q000652:urine; D014969:Xanthine Oxidase; D014976:Xanthopterin / Q000031:analogs & derivatives* / Q000652:urine
D011622:Pterins; D010649:Phenylalanine; D014969:Xanthine Oxidase; D014976:Xanthopterin; D008727:Methotrexate