Question
The newborn underwent a heel prick test seven days after birth, and both the initial and follow-up tests showed an abnormal phenylalanine concentration. The hospital requested further examination. Subsequently, the parents took the child to Gansu Provincial Maternal and Child Health Hospital for a detailed examination, where all other projects were normal except for a slightly elevated phenylalanine concentration (3.14 mg/dl). Why was the initial phenylalanine concentration abnormal? Is it possible to have phenylketonuria?
Answer
Based on the parents’ provided test results, the newborn had a phenylalanine concentration of 3.14 mg/dl during the heel prick test seven days after birth. Normally, the phenylalanine concentration should be less than 2 mg/dl. Since the child’s phenylalanine concentration is slightly elevated and all other projects were normal after a detailed examination, it is necessary to consider the possibility of phenylketonuria. It is recommended that parents arrange for further diagnosis and treatment as soon as possible, as early diagnosis and treatment result in better outcomes.