Phenylalanine hydroxylase deficiency in the peripheral lymphocytes from phenylketonuria.
A radiograph of the incorporation of 3H-phenylalanine and 3H-tyrosine into cultured lymphocytes in a phenylketonuria patient indicates phenylalanine hydroxylase deficiency in the peripheral lymphocytes. Cultured lymphocytes from the patient showed much less uptake of 3H-phenylalanine and a slightly higher incorporation of 3H-tyrosine than the control. It is possible that a lack of phenylalanine hydroxylase in the peripheral lymphocytes of PKU patients prevents oxidation of phenylalanine to tyrosine.
Department of Dermatology, Tokyo Teishin Hospital, 2-14-23 Fujimi, Chiyoda, Tokyo 102, Japan.
T
T
Yoshii
K
K
Toda
T
T
Kobori
D001345:Autoradiography; D016022:Case-Control Studies; D002478:Cells, Cultured; D005260:Female; D006801:Humans; D007564:Japan; D008214:Lymphocytes / Q000378:metabolism*; D008297:Male; D010649:Phenylalanine / Q000494:pharmacology; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000378:metabolism; D010661:Phenylketonurias / Q000473:pathology*; D012016:Reference Values; D012494:Sampling Studies; D012680:Sensitivity and Specificity; D014443:Tyrosine / Q000494:pharmacology
D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase