ON INDICATIONS FOR TREATMENT OF THE HYPERPHENYLALANINEMIC NEONATE |
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Authors: | FLEMMING GÜTTLER ERIK WAMBERG |
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Institution: | The John F. Kennedy Institute, Glostrup, Denmark |
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Abstract: | Abstract. Of 488 006 neonates tested by Guthrie screening 58 showed values above 2.5 mg/100 ml. Thirty-two showed values between 2.5 nig/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 mg/100 ml (605 μmol/1). 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. |
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Keywords: | Neonatal hyperphenylalaninemia phenylketonuria phenylalanine tolerance indications for treatment |
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