phenylketonuria

Definitions

  • WordNet 3.6
    • n phenylketonuria a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
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Usage


In news:

Much of the neurological havoc wreaked by the rare genetic disorder phenylketonuria (PKU) can be prevented through early, thorough, and continuous care.
Restriction fragment length polymorphisms (RFLPs) detected in the human genome by means of a cDNA clone of phenylalanine hydroxylase (PAH) segregate concordantly with phenylketonuria (PKU) in several families.
We are troubled by some assumptions in the Seminar on phenylketonuria by Nenad Blau and colleagues (Oct 23, p 1417).
In patients with phenylketonuria , blood phenylalanine concentration during childhood is the major determinant of cognitive outcome.
Much of the neurological havoc wreaked by the rare genetic disorder phenylketonuria ( PKU ) can be prevented through early, thorough, and continuous care.
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