On indications for treatment of the hyperphenylalaninemic neonate.
Of 488 006 neonates tested by Guthrie screening 58 showed values above 2.5 mg/100 ml. Thirty-two showed values between 2.5 mg/100 ml and 15 mg/100 ml. Eighteen of these infants appeared to have phenylketonuria (PKU) and fourteen to have persistent hyperphenylalaninemia (HPA). Neither the initial Guthrie test-value nor the confirmatory test were able to differentiate between these two conditions. Consequently a phenylalanine restricted diet is started in any child with serumphenylalanine values exceeding 10 mh/100 ml (605 micronmol/l). The data show that the course of the dietary tolerance of phenylalanine and a 24-hour phenylalanine load test will differentiate infants with PKU from those with HPA.
D003718:Denmark; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000178:diet therapy; D008297:Male; D008403:Mass Screening; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D010649:Phenylalanine