Abstract:
:The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test should be performed. Treatment to prevent sequelae from this disorder is best carried out in cooperation with an experienced PKU center. Dietary care is expensive, and financial assistance may be necessary for many families. A phenylalanine-restricted diet should be started as soon as possible. Occasionally, cases of PKU are missed by newborn screening. Thus, a repeat PKU test should be performed in an infant who exhibits slow development.
journal_name
Am Fam Physicianjournal_title
American family physicianauthors
Koch RKsubject
Has Abstractpub_date
1999-10-01 00:00:00pages
1462-6issue
5eissn
0002-838Xissn
1532-0650journal_volume
60pub_type
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