Question
Is Phenylketonuria a Genetic Disease?
Answer
Phenylketonuria is a genetic disease, a congenital amino acid metabolism disorder. Children with this condition cannot normally convert phenylalanine into tyrosine, and instead, it is excreted from the body as phenylpyruvate, leading to the presence of phenylpyruvate in the urine. This is a treatable genetic metabolic disease, with better outcomes when treated early. Newborn screening can diagnose the condition before symptoms appear, allowing for timely treatment and prevention of complications.