Question
The newborn heel prick test says it didn’t pass, and the doctor suggested a retest due to high phenylalanine levels. How high is this level? What is the success rate of the retest? I just had a retest done and am waiting for the results. Also, a urine test was done and said it was a bit high, so it needs to be retested. Could this be phenylketonuria?
Answer
From the information you provided, the newborn heel prick test indicates elevated phenylalanine levels, and urine test results also show abnormalities, both pointing to the possibility of phenylketonuria. Phenylketonuria is a genetic disorder typically diagnosed through newborn screening. A retest is necessary to confirm the initial screening results and assess the child’s condition. Although the success rate of the retest varies from individual to individual, it is important to follow the doctor’s advice and complete all necessary tests. Additionally, since phenylketonuria is related to genetics, it is recommended to regularly assess the child’s intelligence, especially if there is a family history of genetic diseases.