Abstract
Classical phenylketonuria (PKU) is one of the most common inherited metabolic disorders in Western populations. Without treatment it leads to permanent and severe mental handicap. Restriction of dietary phenylalanine (phe), combined with amino acid, vitamin and mineral supplements, is highly successful in preventing neurological disease, provided that treatment is started within the first weeks of life. Since there are no clinical diagnostic features in early infancy this can only be achieved by newborn screening. Population screening for PKU is cost effective and methods based on the detection of a raised blood phe are highly sensitive and specific. Other metabolic disorders may also be suitable for newborn screening, but the effectiveness of screening is usually less apparent. However, the development of a new methodology that enables a number of disorders to be diagnosed from a single specimen is likely to result in an expansion in screening programmes.
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