Question
The child grows slower and has higher intelligence than same age children. A thorough examination often suggests phenylketonuria. I want to know what phenylketonuria is all about?
Answer
Phenylketonuria is a congenital amino acid metabolic disorder commonly found in familial inheritance. Patients lack phenylalanine hydroxylase, leading to the accumulation of phenylalanine and phenylpyruvate, which may affect cognitive development in severe cases. Early detection and appropriate dietary control can help slow down the progression of the disease and promote normal development.