Current research in PKU aims to develop better treatments and possibly a cure. Some promising areas include:
1. Gene Therapy: Introducing functional copies of the PAH gene into liver cells to restore enzyme activity. 2. Enzyme Replacement Therapy: Using recombinant phenylalanine hydroxylase or other enzymes to reduce phenylalanine levels. 3. Pharmacological Chaperones: Small molecules that stabilize the mutant PAH enzyme, enhancing its function and reducing phenylalanine levels.
