Patient's question:
My baby is a premature child, and I was very worried about the child's condition from the beginning. Recently, the child has appeared with this series of conditions, and I am also very worried, afraid that the child will become worse. Can a 45-day-old infant with phenylketonuria be treated?Doctor's answer:
Phenylketonuria is an amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine metabolic pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. If severe, it can cause damage to the central nervous system. Once diagnosis is confirmed, active treatment should be initiated as early as possible, primarily through dietary therapy. The earlier treatment begins, the better the outcome. Infants can be fed specially formulated low-phenylalanine formula, and during the weaning period, supplementary foods should mainly consist of low-protein foods such as starches, vegetables, and fruits. Dietary control should be maintained at least until after puberty. In other words, apart from dietary control, there are no effective targeted treatments for this disease.