Phenylketonuria (PKU) is a disease whose severity and burden remains poorly understood. There is a false perception that early diagnosis and a good standard of care have ‘solved’ the problem, and that all European patients have equal access to such care. PKU is a rare inherited genetic disorder resulting from a deficiency in the enzyme that metabolises the amino acid phenylalanine (Phe). If left untreated, PKU causes brain damage, severe developmental, psychological and psychiatric disorders in patients. PKU affects each patient differently throughout their lives depending on the severity of their disease, their age at diagnosis, the treatments they follow …
