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PKU was the first disorder to be routinely diagnosed through widespread newborn screening. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [67] With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world.
Newborn screening originated with an amino acid disorder, phenylketonuria (PKU), which can be easily treated by dietary modifications, but causes severe Intellectual disability if not identified and treated early. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [12]
The test has been widely used throughout North America and Europe as one of the core newborn screening tests since the late 1960s. The test was initially a bacterial inhibition assay, but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry that can detect a wider variety of congenital diseases.
Throughout the 1960s, PKU testing expanded in the United States and around the world, eventually becoming required by law in many jurisdictions. [1] With the success of PKU testing, Guthrie and his colleagues focused on screening tests for other diseases that can affect newborns.
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
The family was sent to Duke University for further testing, where a 100-gene epilepsy panel was performed. ... They then wanted to do a more in-depth panel because she has Phenylketonuria (PKU ...
One important note: Excess biotin can also "cause incorrect results in certain laboratory tests that look at thyroid levels and blood markers that can help diagnose heart attacks," says Dr. Castillo.
Hyperphenylalaninemia most is commonly diagnosed by newborn screening and must be distinguished from classic PKU by confirmatory testing at an experienced center. Some cases in adult women have been detected using maternal screening programs or following birth of children with birth defects.
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