Birth Defects - Metabolic Defects

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Early identification and treatment

It is now possible to identify affected children a few weeks after birth with the development of a simple, reliable and inexpensive test called the Guthrie Test for excessive serum phenylalanine. In a majority of the cases, the newborn babies are tested before they can be discharged from the hospital. In the procedure, a technician pricks a newborn's heel and prepares a small filter paper disk of dried blood. It is placed on top of a plate containing bacteria that grow only if phenylalanine is present. By comparing the results with control samples, it can be determined if an infant has the disease. 


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