Phenylketonuria is primarily treated through dietary control, supplemented by medication, and requires consistent treatment to manage symptoms.
The primary treatment for phenylketonuria involves dietary control, using low-protein foods, and administering low-phenylalanine formula in early childhood to mitigate damage to the central nervous system.
Understand the treatment methods for three-year-old PKU children and explore dietary treatment strategies for phenylketonuria.
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.
The presence of a rodent urine odor in urine may be a sign of phenylketonuria, a congenital disease. However, if the child appears to be in good health overall, the likelihood is low. It is recommended to undergo routine urine and blood tests to determine the cause of the condition.
The main symptoms of phenylketonuria (PKU) in children include intellectual disability, epilepsy seizures, urine odor, yellow hair, and difficulties in motor coordination. Therefore, these children require special diets to lower the blood phenylalanine levels to prevent neurological damage. The diet should avoid protein-rich foods as much as possible.
Explore the screening methods and biochemical indicators for phenylketonuria
Phenylketonuria may not show any apparent symptoms in newborns, but as they grow, problems with intellectual and language development may gradually appear.
Phenylketonuria newborn screening typically involves a venous blood test to measure the level of phenylalanine in the blood.
The typical symptoms of phenylketonuria in infants include delayed development of the nervous system, hyperactivity, decreased muscle tone, and other signs such as lightening of the skin and iris color.