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  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    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.

  3. Hyperphenylalaninemia - Wikipedia

    en.wikipedia.org/wiki/Hyperphenylalaninemia

    Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...

  4. Newborn screening - Wikipedia

    en.wikipedia.org/wiki/Newborn_screening

    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]

  5. Neonatal heel prick - Wikipedia

    en.wikipedia.org/wiki/Neonatal_heel_prick

    The blood of a two-week-old infant is collected for a Phenylketonuria, or PKU, screening. The neonatal heel prick is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood.

  6. Ivar Asbjørn Følling - Wikipedia

    en.wikipedia.org/wiki/Ivar_Asbjørn_Følling

    Today a screening blood test for PKU is done on newborns to detect the disease. With a special diet low in phenylalanine, PKU newborns can grow and develop into normal children and adults. Følling's work was too late to save Liv and Dag from severe progressive mental retardation (and in Dag's case, death) but it has saved thousands of children ...

  7. Robert Guthrie (microbiologist) - Wikipedia

    en.wikipedia.org/wiki/Robert_Guthrie...

    In two years, they had tested 400,000 American newborns, and diagnosed 39 with PKU. This early diagnosis allowed for early treatment and avoidance of the most severe consequences of the disease. [1] Throughout the 1960s, PKU testing expanded in the United States and around the world, eventually becoming required by law in many jurisdictions. [1]