ON INDICATIONS FOR TREATMENT OF THE HYPERPHENYLALANINEMIC NEONATE

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Abstract
Of 488,006 neonates tested by Guthrie screening 58 showed values above 2.5 mg/100 ml; 32 showed values between 2.5-15 mg/100 ml. Of these infants, 18 appeared to have phenylketonuria (PKU) and 14 have persistent hyperphenylalaninemia (HPA). Neither the initial Guthrie test-value nor the confirmatory test were able to differentiate between these 2 conditions. Consequently, a phenylalanine restricted diet is started in any child with serum phenylalanine values exceeding 10 mg/100 mg (605 .mu.mol/l). The course of the dietary tolerance of phenylalanine and a 24 h phenylalanine laod test will differentiate infants with PKU from those with HPA.

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