Question

When a newborn’s blood test at birth shows an Not qualified result for the phenylketonuria screening, what should be done?

Answer

An Not qualified phenylketonuria screening in newborns may indicate the presence of this amino acid metabolism disorder. Further tests are needed for a definitive diagnosis. Phenylketonuria can have significant impacts on children, potentially leading to intellectual disability and neurological symptoms. Therefore, treatment should be initiated as soon as possible. Early treatment can help children recover normal intellectual levels.