Discovery of new candidate genes for ovarian cancer, novel enzyme treatment for PKU, early identification of retinoblastoma. |
To learn more about PKU, please visit www. PKU.com. Information on this website is not incorporated by reference into this press release. |
People with PKU are unable to properly metabolize the amino acid, phenylalanine. |
He also developed and instituted a method of examining the blood of newborn infants to screen them for a number of inherited biochemical conditions, such as PKU and hypothyroidism, allowing early and effective treatment. |
The only treatment currently available for PKU patients is a highly restrictive and expensive medical food diet that most patients fail to adhere to the extent needed for achieving adequate control of blood Phe levels. |
The three main laboratory methods used to screen newborns for PKU are the Guthrie bacterial inhibition assay, fluorometric analysis and tandem mass spectrometry. |