Patient's question:
Cannot speak, walk, yellow hair, have epilepsy, last Tuesday, because of epilepsyDoctor's answer:
Phenylketonuria (PKU) is a type of congenital metabolic disease. Infants appear normal at birth, but symptoms typically appear between 3 to 6 months after starting to eat, and become by the age of one.Recommendations: Once the diagnosis is confirmed, active treatment should be initiated as early as possible, primarily through dietary therapy. The earlier treatment begins, the better the outcome.
Lifestyle Care: Since phenylalanine is an essential amino acid for protein synthesis, a complete deficiency can also lead to neurological damage. Therefore, infants can be fed specially formulated low-phenylalanine formula milk, and during the weaning period, supplementary foods should mainly consist of low-protein foods such as starches, vegetables, and fruits.
Phenylalanine Requirements:
- Up to 2 months: Approximately 50–70 mg/(kg·d)
- 3–6 months: Approximately 40 mg/(kg·d)
- 2 years: Approximately 25–30 mg/(kg·d)
- 4 years and older: Approximately 10–30 mg/(kg·d)
The goal is to maintain blood phenylalanine levels between 0.12–0.6 mmol/L (2–10 mg/dL).
Dietary control should be maintained at least until after puberty.