A mother brings her 2-week-old infant to a clinic for a phenylketonuria rescreening blood test. The test indicates a serum phenylalanine level of 1 mg/dL (60.5 mcmol/L). The nurse reviews this result and makes which interpretation?
ExplanationPhenylketonuria is a genetic (autosomal recessive) disorder that results in central nervous system damage from toxic levels of phenylalanine (an essential amino acid) in the blood. It is characterized by blood phenylalanine levels greater than 20 mg/dL (1210 mcmol/L); normal level is 0 to 2 mg/dL (0 to 121 mcmol/L). A result of 1 mg/dL is a negative test result.