Patient's question:
My friend's child, who was two months old, underwent thorough examinations twice at the Neonatal Disease Screening Center of the local Maternal and Child Health Care Hospital, both of which showed phenylketonuria. The child has been asymptomatic, so no treatment has been provided yet at four months. My friend told me that delayed treatment for this condition can be very dangerous. Hello, what does it mean if the neonatal disease screening result for PKU is negative?Doctor's answer:
The key to treating typical PKU lies in suppressing the content of phenylalanine (PA) in the diet. A low-phenylalanine diet is adopted, and infants can be fed with synthetic low-phenylalanine formula milk during the infant stage, which is also produced domestically. This allows the body to meet the minimum needs of decomposition metabolism and growth and development while ensuring that the blood PA content does not become excessively high, thereby preventing brain damage. Dietary suppression should begin early; if it starts after 6 months of age, the efficacy is poor, and if it starts at 4–5 years old, it is ineffective due to the basic completion of nervous system development.