In Malta phenylketonuria (PKU) is mostly due to dihydropteridine reductase (DHPR) deficiency rather than phenylalanine hydroxylase deficiency (classical PKU), and is associated with long term neurodisability in all affected patients. The absence of newborn screening for PKU in Malta results in a later diagnosis and an increased burden on families and affected individuals. This burden is further compounded by problems in adherence to strict low-phenylalanine diets, in part due to problems dispensing appropriate amounts of low- phenylalanine products and, in those with DHPR, the regular provision of neurotransmitter and cofactor supplementation. Over a 6.5-year review, complete provisions were dispensed in 68% of all prescriptions for L-dopa, 67% for 5- hydroxytryptophan, 63% for low protein food, 61% for folinic acid and just 30% for low protein drinks. The problems encountered in the management of PKU highlight similar problems facing those with other rare, metabolic or ‘orphaned’ diseases. Yet some of these problems, particularly with regard to the dispensing of medicines and special food products can be reduced or eliminated. This would require a radical and comprehensive overhaul of the funding, procurement, stocking and dispensing of all pharmaceutical provisions in order to achieve stable phenylalanine levels throughout childhood and through to later life.peer-reviewe
