LATE DIAGNOSIS OF PHENYLKETONURIA IN A 2 1 2-YEAR-OLD GIRL/

Newborn screening programs for inborn errors of metabolism are well es tablished in industrialized countries. Missed cases may be not only du e to errors in specimen collection and laboratory errors but also to f ailures in adequate follow up. We report the case of a now 4-year-old girl whose classical phenylketonuria was diagnostically missed in the course of follow-up procedures of a pathological screening result 1067 mu mol/l 17,6 mg% phenylalanine. Discussion:The case highlights poten tial pitfalls in the screening process. It reinforces standing recomme ndations for careful follow-up procedures of pathological screening re sults.