In these cases the metabolic specialist may arrange for co-factor testing. False negatives occur in PKU infants who are taken off protein feedings or are screened prior to receiving protein feedings. Delaying treatment for only a few weeks diminishes I.Q. outcome. Young women with PKU must maintain their PKU diet prior to and during pregnancy to prevent fetal loss and fetal brain damage. The dietary treatment requires use of special formula and specially formulated foods obtained through metabolic centers and pharmacies.
Parents require education in assessing food labels and in food preparation.
Families should receive genetic counseling. If this is the first screen, repeat screen. Do not alter diet. If TDH lab is used, use form G-127, noting lab number of the first screen if available, preceded by 'AP'. Fed Ex specimen overnight Contact a metabolic specialist.