4
How is Phenylketonuria diagnosed?
How Phenylketonuria is diagnosed: tests, specialists and the diagnostic journey, told by patients and reviewed against medical sources.
Phenylketonuria (PKU) is usually tested for at birth. Most babies in developed countries are screened for PKU soon after birth. Screening for PKU is done with bacterial inhibition assay (Guthrie test), immunoassays using fluorometric or photometric detection, or amino acid measurement using tandem mass spectrometry (MS/MS). Measurements done using MS/MS determine the concentration of Phe and the ratio of Phe to tyrosine, the ratio will be elevated in PKU.
Posted Feb 24, 2017 by Levi Christopher Lucero, Jr. 2185
When a baby is born, doctors take a blood sample from their Achilles' heel. They test the sample for various diseases, one of the is PKU. In my country every person with PKU had a close relationship since then with a psychologist, a nutritionist and of course an endocrinologist. In order to keep track of the phe levels in a person, each month a blood sample is sent to the hospital in charge and they analyze it to report back to the family for the progress of the child.
Posted Sep 18, 2017 by Georgina 1300
In the US when a child is born it is mandated that each baby receive a Newborn Screening test which diagnoses this condition 98% of the time. There are a few older children who don't find out for a few years if the parents object to Newborn screening that also tests for other genetic disorders
Posted Sep 22, 2017 by Nickelle 2000
PkU is diagnosed in America by the Guthrie test at birth. Not tested normally in Mexico and other countries unless requested
Posted Jan 28, 2020 by Ryan 600
