If newborn disease screening reveals abnormalities, it is recommended to conduct a blood test immediately for reconfirmation. Early detection and treatment can prevent intellectual disability and neural damage. If suspicious symptoms arise, seek medical attention at a regular hospital promptly to avoid delaying the condition and causing irreversible harm to the child’s intelligence and nervous system. Parents should closely monitor their child’s condition and seek timely treatment to avoid severe damage to the child from hereditary metabolic diseases.

Phenylketonuria (PKU) is a genetic amino acid metabolism disorder where the body cannot properly metabolize phenylalanine, leading to the accumulation of phenylalanine and its metabolites in the body, which damages the nervous system and manifests as symptoms such as intellectual disability, epilepsy, and unusual urine odor. Treatment involves special diets and medications to lower the concentration of phenylalanine in the blood, preventing damage to the nervous system.

TSH and PKU in newborn disease screening are indicators to check if a child has congenital hypothyroidism or phenylketonuria.

TSH and PKU in newborn disease screening are indicators used to detect if a child has congenital hypothyroidism or phenylketonuria.