babies in England are now to be offered screening for four rare
life-threatening genetic disorders.
conditions - estimated to affect around 30 babies a year - will be detected
through an expansion to Public Health England's NHS Newborn Screening
Programme. Identifying affected babies early will allow treatment to prevent
severe disability or death.
genetic disorders - homocystinuria, maple syrup urine disease, glutaric
aciduria type 1 and isovaleric acidaemia - affect metabolism so that patients have
difficulty breaking down amino acids, the 'building blocks' of proteins. The
resulting build-up of dietary protein can lead to brain damage, severe
disability or early death, but a change in diet could help save lives.
MP, public health minister, said: 'This is really welcome
news. Expanding the screening has the potential to make a huge difference to
the lives of babies born with rare genetic disorders.'
babies in England are currently offered a heel prick test at five to eight days
to screen for five inherited conditions including cystic fibrosis and sickle
cell disease. The same test will be used to test for the four additional
Phoenix Thompson was diagnosed with glutaric aciduria type 1 at Sheffield
Children's Hospital during a pilot programme of expanded screening that found
20 confirmed cases of the four extra conditions in 700,000 babies. Michelle
Thompson, Phoenix's mother, said: 'It doesn't bear thinking
about what would have happened if the condition wasn't picked up early.'
Wales will begin later this month. Scotland and Northern Ireland have yet to
reach a decision about expanding their newborn screening programmes.