Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.
D001708:Biopterins / Q000097:blood / Q000172:deficiency*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood* / Q000175:diagnosis; D011621:Pteridines / Q000172:deficiency*
D011621:Pteridines; D001708:Biopterins; D010649:Phenylalanine