Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is associated with greater and long term neurodisability. The absence of newborn screening for PKU in Malta results in a later diagnosis and, to-date, all affected patients require medical support for one or several problems including developmental delay, behavioural issues, cognitive impairment, epilepsy and neurodisability. These are compounded by problems in providing and adhering to strict low-phenylalanine diets and, in those with DHPR, the regular provision of neurotransmitter and cofactor supplementation. As a result, although a small cohort, these patients create a disproportionate demand on health services and, in most cases, will continue to require long term support at all levels since most will be unable to lead an independent existence. A radical and comprehensive overhaul of the local care provided to children with rare metabolic diseases is required at all levels, starting with the introduction of newborn screening, followed by effective dietary and pharmaceutical provision throughout childhood and through to later life.peer-reviewe
