Newborns to be screened for rare genetic disorders

Newborn babies will be screened for four rare life-threatening genetic disorders from today.

All babies will be offered screening for the four inherited metabolic diseases, which can cause death or lifelong disability, as part of a Public Health England programme.

The NHS already uses a blood test on babies when they are five to eight days old to screen for five conditions including cystic fibrosis and sickle cell disease.

The same test will now be used to check if an infant has homocystinuria, maple syrup urine disease, glutaric aciduria type 1, or isovaleric acidaemia.

Inherited metabolic diseases are genetic diseases that affect the metabolism. Babies with these conditions cannot process certain substances in food and, without treatment, can become suddenly and seriously ill.

They can be treated by a carefully managed diet, but untreated inherited metabolic diseases can lead to severe learning disabilities and developmental problems.

Early detection and treatment is expected to benefit around 30 children in England a year, such as 16-month--old Phoenix Thompson who was diagnosed with glutaric aciduria type 1 in the initiative’s pilot programme at Sheffield Children’s Hospital.

His mother Michelle Thompson, from Lincolnshire, said: “It is unexplainable how important the screening was for us. It means Phoenix can receive the care and treatment he needs.

“It doesn’t bear thinking about what would have happened if the condition wasn’t picked up early.”

Common illnesses like colds can be more dangerous for sufferers of inherited metabolic diseases so early detection of the disorders also means parents will be aware when their child needs specialist treatment.

Jane Ellison, the 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.

“Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected.”

Dr Anne Mackie, director of programmes for the NHS Screening Programmes, said: “Screening for these rare disorders has the potential to benefit around 30 children in England each year. The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions.”


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