In the classic phenylketonurea, the affected infant is normal at birth, intellectual disability develops gradually if the infant remains untreated, and cognitive delay may not be evident for the first few months. All the following are true about neonatal screening program of this condition EXCEPT
- Guthrie test was the 1st method used
- optimal time for Guthrie test at 7-14 of life
- blood phenylalanine may rise to a diagnostic level as early as 4 hr after birth
- fluorometric and tandem mass spectrometry give a low false-positive rate
- diagnosis must be confirmed by measurement of plasma phenylalanin centration
Medicine
(B). It is recommended that the blood for screening be obtained in the first 24-48 hr of life after feeding protein to reduce the possibility of false-negative results, especially in the milder forms of the condition.
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