Question

How to handle a 15-day-old infant with low phenylalanine detected after a four-day blood test, what were the previous treatment situations and effects: Seeking help for how to treat it, and what is the worst-case scenario?

Answer

Phenylketonuria is a congenital metabolic disease caused by a chromosomal gene mutation leading to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in a disorder of phenylalanine (PA) metabolism and damage to the central nervous system. The low phenylalanine dietary therapy is currently the only method for treating classic PKU, with the aim of preventing brain damage. For the treatment of atypical phenylketonuria, in addition to dietary therapy, it is also necessary to digest various neurotransmitters, such as BH4, dopamine, serotonin, and folic acid.