Newborn babies are routinely screened for a number of genetically inherited conditions. These are usually defects of amino acid metabolism or other enzyme-dependent disorders. These deficiencies can cause severe mental retardation, liver, kidney or other organ failure and in many cases can lead to premature death. However, when detected early enough they can be adequately controlled to prevent symptomatic expression and severe disease. Thus early detection is vital to avoid potentially fatal consequences.
Worldwide over 130 million babies are born every year. Approximately 35 million of these babies are currently screened for some of the disorders through national screening programmes, e.g. 4 million in North America and some 5 million in Western Europe.
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