What Are the Treatment Options for Phenylketonuria (PKU)?
Disease description:
My child has been diagnosed with phenylketonuria (PKU), and I would like to explore treatment options. What are the available treatments for PKU?
Doctor's answer (1)
Dr. Ma Fujun
Phenylketonuria (PKU) is typically caused by mutations in the phenylalanine hydroxylase gene. A low-phenylalanine diet usually improves clinical symptoms; if dietary therapy is insufficient, pharmacological treatment—such as tetrahydrobiopterin (BH4) therapy—may be considered. Regular follow-up visits to the hospital are essential to monitor disease control.
