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Rare disorder infant check scheme unveiled

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The blood of approximately 430,000 newborn babies will be checked for five rare inherited illnesses in a 12-month initiative beginning this summer.

About half of all newborns will be checked for maple syrup urine disease, homocystinuria and three types of acidaemia. They will be tested for these diseases within a week of being born.

At present, all of the approximate 700,000 babies born every year are tested for rare genetic disorders such as cystic fibrosis and sickle cell anaemia and approximately 1,000 positive screenings are detected in the process.

People with maple syrup urine disease, which affects one in 120,000 people, are unable to digest some proteins. One of the symptoms of the condition is that the patient’s urine can smell like maple syrup. It can be life-threatening if it remains undetected for any length of time.

Affecting one in 100,000 people, homocystinuria can cause visual problems and chest and spine deformities and inhibits the body’s metabolism of the amino acid methionine.

Patients can also suffer form a low IQ and mental disorders and although there is no known cure, many patients respond well to large vitamin B doses.


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Readers' comments (1)

  • Presumably this will be tested on the blood taken by heel prick on days 5-7, which is already tested for several conditions. I remember reading years ago that there were many other diseases that could be looked for on the same blood spots, but that most would not be 'cost effective' to process. Read into that what you will!

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