The list of medical tests mentioned in various sources as used in the diagnosis of Phenylketonuria includes:
The following medical news items are relevant to diagnosis and misdiagnosis issues for Phenylketonuria:
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All states require screening for PKU at birth; the Guthrie screening test on a capillary blood sample (bacterial inhibition assay) reliably detects PKU. However, because phenylalanine levels may be normal at birth, the neonate should be reevaluated after he has received dietary protein for 24 to 48 hours. The common practice of discharging new mothers from the hospital within 24 hours of delivery has resulted in failure to detect some neonates with PKU. For this reason, some states now require a minimum hospital stay of 48 hours after a vaginal delivery.
Adding a few drops of 10% ferric chloride solution to a wet diaper is another method of detecting PKU. If the area turns a deep, bluish green, phenylpyruvic acid is present in the urine.
Chorionic villi sampling can be used to detect fetal PKU as a prenatal diagnosis. Enzyme assay can be used to detect the carrier state in parents.
Source: Professional Guide to Diseases (Eighth Edition), 2005
An enzyme assay, which is performed on adults, may detect the carrier state. Prenatal diagnosis is made with a chorionic villi sample to detect fetal PKU. In neonates, PKU screenings are performed on a heelstick blood sample, a procedure that’s mandatory in most states. However, because phenylalanine levels may be normal at birth, a neonate should be reevaluated after receiving dietary protein for 24 to 48 hours. The common practice of discharging new mothers from the hospital within 24 hours of delivery has resulted in failure to detect some infants with PKU. For this reason, some states now require a minimum hospital stay of 48 hours after a vaginal delivery.
Detection of elevated blood levels of phenylalanine confirms the diagnosis.
Source: Handbook of Diseases, 2003
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