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What is PKU?

What is PKU? Here are some definitions.

Noun
  1. Abbreviation of phenylketonuria.
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Dr Al-Abed envisages a population-wide screen, like the infant heel-prick test which is used to detect PKU, a metabolic disorder, in newborns.
Under the tutelage of Dr. Charles Scriver, she created a registry of female patients with PKU, a genetic disorder that can put the foetus of an affected woman at risk for congenital malformation.
The three main laboratory methods used to screen newborns for PKU are the Guthrie bacterial inhibition assay, fluorometric analysis and tandem mass spectrometry.
All services are provided in both official languages and constitute the core services offered to PKU patients.
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.
Discovery of new candidate genes for ovarian cancer, novel enzyme treatment for PKU, early identification of retinoblastoma.

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