Patient's question:
Patient Gender:Patient Age:
Main Symptoms:
The child suffers from phenylketonuria due to incompatible genes from the parents. Onset Time:
Laboratory Test Results:
Doctor's answer:
It's not about whether the genes match or not. Phenylketonuria (PKU) is a type of congenital metabolic disease caused by a chromosomal gene mutation that leads to a deficiency of phenylalanine hydroxylase in the liver, resulting in phenylalanine metabolic disorder and causing damage to the central nervous system. PKU is one of the earliest genetic metabolic diseases to be proposed for treatment. If diagnosed early and treated promptly, it can prevent intellectual damage in children, allowing them to live a normal life. The low-phenylalanine diet is the only classic treatment method for PKU, and its goal is to prevent brain damage. The principle of the diet is to ensure that the intake of phenylalanine meets the minimum requirements for growth and metabolism. Due to the lack of phenylalanine hydroxylase in the liver, phenylalanine cannot be metabolized normally and accumulates excessively in the blood, causing the child's urine to have a mouse-like odor. Phenylalanine is an essential amino acid, and insufficient supply can lead to delayed growth and development, which may even be fatal. Therefore, phenylalanine intake should neither be too high nor too low. Since natural proteins contain 4-6% phenylalanine, the intake of natural proteins must be controlled, and low- or phenylalanine-free milk powder and protein should be used as the main protein sources for the child. 80% of the total protein intake should come from artificial protein, while 20% comes from natural protein, with sufficient calories also being provided.