Question
Is it possible to have phenylketonuria after the age of 20?
Answer
Phenylketonuria is a congenital metabolic disorder that is typically diagnosed in infancy. However, the condition can affect individuals throughout their lives, so even after the age of 20, patients may still be impacted by phenylketonuria. Phenylketonuria is a genetic disease usually caused by a deficiency or insufficiency of an enzyme called phenylalanine hydroxylase (PAH). This enzyme is responsible for converting an amino acid called phenylalanine into tyrosine. When PAH enzyme is lacking or insufficient, phenylalanine accumulates in the body, leading to an excess of phenylpyruvate, a harmful metabolic product. The symptoms of phenylketonuria include developmental delays, behavioral problems, skin and gastrointestinal issues, among others. Treatment methods include low-phenylalanine diets, medication, and gene therapy. It is recommended that patients seek advice and treatment from professional doctors.