Phenylketonuria may be the cause of high phenylalanine in postpartum infants who have undergone genetic testing.
Phenylketonuria is a chromosomal recessive disorder, mainly due to the lack of phenylalanine hydroxylase enzyme in the infant’s body, resulting in the inability of the infant to metabolize phenylalanine, which causes a buildup of phenylalanine in the infant’s body, leading to the phenomenon of high phenylalanine in infants.
Children with phenylketonuria will have symptoms such as backward mental development, abnormal hair odor, seizures and abnormal body odor. It is important to feed babies low-phenylalanine formula instead of breast milk or regular infant formula to avoid the buildup of phenylalanine in the baby’s body as a way of stopping the disease from damaging the body.
Clinically, when the above symptoms appear in infants, they should go to the hospital for examination as early as possible and under the guidance of doctors for standardized treatment.