Question

My baby was tested for possible phenylketonuria at 30 days old and is currently undergoing retesting. The hospital’s standard value is 2.0, and my child’s result is exactly 2.0, at the boundary state. I am very worried about developing this disease. Is a phenylketonuria index of 2 normal? Seeking help: Is a phenylketonuria index of 2 normal?

Answer

Phenylketonuria is an inherited metabolic disorder caused by an enzyme defect in the metabolism pathway of phenylalanine (PA), leading to the inability to convert phenylalanine into tyrosine, resulting in the accumulation and excessive excretion of phenylalanine and its ketoacids in the body. In this case, early detection and intervention treatment can usually result in a good prognosis. Although it cannot be cured spontaneously, it can prevent brain damage in children.