Question

Is Phenylketonuria easy to treat?

Answer

Phenylketonuria is a genetic metabolic disease caused by a deficiency of an enzyme called phenylalanine hydroxylase, which prevents the normal metabolism of phenylalanine and leads to excessive production of phenylpyruvate. Currently, there is no cure for phenylketonuria, but it can be managed through dietary control. For patients with mild or moderate symptoms, a low-phenylalanine diet is typically recommended, involving the limitation or avoidance of foods containing phenylalanine. In some cases, specific medications may be used to aid in the metabolism of phenylpyruvate. It is crucial that patients undergo regular medical monitoring and management to adjust treatment plans as needed.