Does phenylketonuria require lifelong treatment?
Dec 02, 2024
Source: Cainiu Health
Dr. Yang Ziqi
Introduction
Phenylketonuria (PKU) is a congenital genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene, leading to impaired metabolism of phenylalanine. This results in its accumulation in the body and triggers a series of adverse symptoms. Metabolic disorders caused by gene mutations cannot be completely cured; therefore, patients with PKU require lifelong treatment.
Generally, phenylketonuria (PKU) may require lifelong treatment. The detailed analysis is as follows:
Phenylketonuria is a congenital genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene, which leads to impaired metabolism of phenylalanine. As a result, phenylalanine accumulates in the body, causing a series of adverse symptoms. Since the metabolic disorder caused by gene mutation cannot be completely cured, patients with PKU require lifelong treatment.
The main treatment for phenylketonuria involves dietary management. Patients must limit their intake of foods containing phenylalanine and choose low-protein foods, such as vegetables and fruits. For infants and young children, parents should provide special low-phenylalanine formula milk. In addition, depending on the severity of the condition, some patients may also require medication or liver transplantation.
Although phenylketonuria cannot be completely cured, lifelong treatment can effectively control the disease and improve the patient's quality of life. Therefore, patients and their families should actively cooperate with the doctor's treatment plan and undergo regular follow-up examinations to monitor disease progression and adjust the treatment accordingly.
