enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    Blood is taken from a two-week-old baby to test for phenylketonuria. PKU is commonly included in the newborn screening panel of many countries, with varied detection techniques. Most babies born in Europe, North America, and Australia are screened for PKU soon after birth.

  3. 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. This technique is used frequently as the main way to collect blood from neonates.

  4. Newborn screening - Wikipedia

    en.wikipedia.org/wiki/Newborn_screening

    Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born.

  5. 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 ...

  6. Pleiotropy - Wikipedia

    en.wikipedia.org/wiki/Pleiotropy

    Unconverted phenylalanine builds up in the bloodstream and can lead to levels that are toxic to the developing nervous system of newborn and infant children. The most dangerous form of this is called classic PKU, which is common in infants. The baby seems normal at first but actually incurs permanent intellectual disability.

  7. This Rare-Disease Biotech Scores an Important Win - AOL

    www.aol.com/news/rare-disease-biotech-scores...

    For premium support please call: 800-290-4726 more ways to reach us

  8. Robert Guthrie (microbiologist) - Wikipedia

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

    Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995) was an American microbiologist, best known for developing the bacterial inhibition assay used to screen infants for phenylketonuria at birth, before the development of irreversible neurological damage. [1]

  9. List of disorders included in newborn screening programs

    en.wikipedia.org/wiki/List_of_disorders_included...

    In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered. Severe combined immune deficiency (SCID) - added in 2009 [3]