Access to treatment, support and innovative new medicines for Phenylketonuria patients

This Debate Pack contains background information, parliamentary and press material, and further reading suggestions which Members may find useful when preparing for this debate.

Phenylketonuria (PKU) is a rare inherited disorder, affecting about 1 in 10,000 babies. Individuals with PKU cannot break down an amino acid called phenylalanine, and when the condition is untreated this can build up in the blood and the brain and cause damage to the brain and nervous system, which can lead to learning disabilities. PKU is managed with a low protein diet, and individuals are monitored with regular blood tests.

There has been some recent debate with regard to access to Sapropterin, marketed as Kuvan, on the NHS. This is a treatment to help improve metabolism of protein and therefore decrease levels in the body among patients that respond to it. NHS England is the responsible commissioner for treatment of PKU, and has produced two commissioning policies with regards to access to Kuvan on the NHS for children and pregnant women, and says that should not be routinely funded, except for some at risk groups of pregnant women. NHS England has recently received a policy proposal for the use of Sapropterin in the management of PKU in adults and children, and has referred the issue to the National Institute for Health and Care Excellence (NICE) to reassess whether the treatment should be routinely provided on the NHS.