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What is New Born Screening?
Over the last 40 years newborn screening has been an undoubted success and many thousands of children have been saved from mental retardation and other problems because of early diagnosis of their disorders. Now many diseases can be diagnosed early by newborn screening and many more are on the horizon. It must be a long-term goal to extend newborn screening tests to all children but, in areas of the world where healthcare delivery is insufficient, solving other health problems has to take precedence over introducing newborn screening. the most significant advance has been the application of tandem mass spectrometry to newborn screening, with the ability to test for 30 or 40 disorders in a single test, using a single 3 mm blood spot.7 This single advance has completely changed the face of newborn screening. Newborn Screening is a well recognised public health programme aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants.
What are Inborn Errors of Metabolism?
Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. A food product that is not broken down into energy can build up in the body and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled.
Are you an expecting or recent parent?
New Born Screening is a simple procedure for diagnosing Inborn Errors of Metabolism. Ask your paediatrician or gynaecologist today about Inborn Errors of Metabolism or we can help you find appropriate experts and resources.
Need help with finding doctors and diets?
Navigating your child through IEM can be a bit overwhelming. Let us help you connect with doctors and licensed diet providers and manufacturers.
How to find doctors and dieticians?
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