Patient's question:
My child has always had yellow hair. Recently, there's been a smell of mouse urine in the child's urine, which is very unpleasant. The past two days, the child kept vomiting. After a thorough examination at the hospital, it was diagnosed as phenylketonuria, and they prescribed several medications. The child doesn't want to take so many, and I'd like to understand how to pay attention to the child's diet. What should be the diet for children with phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine degradation 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. Early and active treatment is essential, primarily through dietary therapy. The earlier treatment begins, the better the outcome. The diet requires restricting the intake of natural protein while digesting protein in the form of low- or phenylalanine-free milk powder. At the same time, natural foods should be included to provide the minimum required amount of PA and other nutrients to ensure sufficient energy. PA is an essential amino acid. In treatment, it is necessary to both limit the intake of PA to prevent its abnormal accumulation and its metabolites, and to ensure the body's needs are met to support the normal growth and development of the child.