Symptoms of phenylketonuria in children

Phenylketonuria in children requires early intervention, and if any abnormalities are found, medical attention should be sought promptly.

Phenylketonuria (PKU) is a genetic metabolic disease in which the child lacks the enzyme that breaks down phenylalanine, causing phenylalanine to accumulate in the body, which may damage the brain and nervous system. Newborn screening can usually detect the disease early and avoid serious consequences.

Untreated children may experience developmental delays, intellectual disabilities, behavioral problems, etc. Some children may also have a sweet body odor, fair skin, or eczema. Some children may show irritability and mood swings, and some may have epileptic seizures. The earlier the disease is discovered, the better it is to prevent further deterioration of these symptoms.

Parents should follow the doctor's advice to help their children strictly control their diet, reduce the intake of foods rich in phenylalanine, such as meat, eggs or dairy products, and continue to observe the child's development. If you don't know how to develop a diet plan, it is recommended to consult a professional doctor or nutritionist to ensure that your child gets comprehensive nutritional support.