Yesterday Liz was delighted to Chair an All-Party Parliamentary Group (APPG) aiming to raise the profile of the rare disease, Phenylketonuria (PKU).
PKU is a rare genetic metabolic disorder affecting around 1:10,000 people in the UK. People with PKU cannot metabolise phenylalanine, an amino acid found within protein foods. This disease can cause irreversible brain damage or impaired cognitive or neurological function if not correctly treated.
Currently, the only treatment funded in the UK is an extremely restricted dietary therapy in which almost all natural protein is removed from the diet. The majority of PKU patients in other European nations have access to the drug BH4 (Kuvan), which can increase a PKU person’s protein tolerance. The NHS does not currently commission Kuvan treatment.
We am hopeful the APPG will raise awareness of PKU and consider the need for improvements to access to treatment. The picture shows Liz with members of the NSPKU (National Society for Phenylketonuria).