A 15-day-old newborn had blood collected over four days and found to have low phenylketonuria. What should be done?

Patient's question:

A 15-day-old newborn had blood collected over four days and found to have low phenylketonuria. What should be done? Previous treatment history and effectiveness: None. What kind of help is desired: How to treat, what is the worst outcome?

Doctor's answer:

Acetonuria is a type of congenital metabolic disease caused by chromosomal gene mutations leading to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in impaired phenylalanine (PA) catabolism and causing damage to the central nervous system. A low-phenylalanine diet is the only current treatment method for classic PKU, and the goal of treatment is to prevent brain damage. For the treatment of atypical phenylketonuria, in addition to dietary therapy, it is also necessary to digest various different neurotransmitters, such as BH4, dopamine, 5-hydroxytryptamine, folic acid, and so on.