Atypical phenylketonuria due to dihydrobiopterin synthetase deficiency.
D001708:Biopterins / Q000096:biosynthesis / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D010661:Phenylketonurias / Q000209:etiology* / Q000235:genetics; D011621:Pteridines / Q000172:deficiency*
D011621:Pteridines; D001708:Biopterins