Question
What should be done if a four-day-old newborn is found to have low phenylalanine levels after four days of blood sampling?
Answer
Phenylketonuria is an inherited metabolic disorder caused by a deficiency in phenylalanine hydroxylase. The current treatment for classic PKU is a low-phenylalanine diet, aimed at preventing brain damage. In addition to dietary treatment, supplementation with various neurotransmitters is also required for atypical phenylketonuria.