Newborns To Be Tested For Rare Disorders

Written By Unknown on Senin, 05 Januari 2015 | 18.54

Newborn babies will be tested for four rare disorders under a programme launched by Public Health England today.

Every child born in England will be offered screening for the life-threatening conditions homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia.

Each disorder is genetic and can cause learning difficulties, development problems, lifelong disabilities and even death.

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

The same test is being extended as part of the programme.

The four disorders affect the metabolism.

Affected babies cannot process certain substances in food and without a carefully managed diet can become suddenly and seriously ill.

Early detection is expected to benefit about 30 children in England each year.

Sixteen-month-year-old Phoenix Thompson was diagnosed with glutaric aciduria type 1 in the initiative's pilot programme at Sheffield Children's Hospital.

His mother Michelle Thompson 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."

Public Health Minister Jane Ellison added: "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."


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