Phenylketonuria with a progressive neurological disorder not responsive to tetrahydrobiopterin.
D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism* / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D009410:Nerve Degeneration; D010661:Phenylketonurias / Q000188:drug therapy / Q000378:metabolism*; D011621:Pteridines / Q000378:metabolism*
D011621:Pteridines; D001708:Biopterins; C003402:sapropterin