Approximately 1 in 10,000 babies in Britain (1 in 4,500 in Northern Ireland) are born with phenylketonuria (PKU). The condition is an inborn error of metabolism.
Sufferers of PKU are unable to metabolise phenylalaline, an amino acid which is part of all food protein. If left untreated from birth, children with PKU would sustain irreversible brain damage caused by the raised level of phenylalaline in their bodies caused by eating everyday food.
Since the introduction of a national screening programme for new-born babies in 1969, early diagnosis has happily become the norm. This has resulted in children with PKU being spared severe mental handicap through dietary therapy. This involves the person with PKU avoiding all protein – except for extremely small measured amounts – and instead taking nourishment from artificial protein supplements and syntheticprotein free foodstuffs.
In recent years research into drug therapies for PKU, most notably in Sapropterin and pegPAL, have held out the promise of less severe treatment regimens for PKU children.
This is only a brief explanantion. If you have PKU or have been recently diagnosed then you need to speak to your consultant to find out more.