PKU


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PKU:

see phenylketonuriaphenylketonuria
(PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and
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PKU

(medicine)
References in periodicals archive ?
We are very close to making European recommendations for the management of PKU.
We believe ADAPT study results are an important step toward improving the overall care of PKU patients.
Using the same newborn blood spots obtained for PKU screening, a machine--in one test--can identify dozens of metabolic disorders.
In a population study in collaboration with Danish scientists, Woo analyzed the RFLP patterns of families containing members afflicted with PKU.
People with PKU have a deficient liver enzyme, making them unable to break down an amino acid found in food, called phenylalanine.
The Guthrie BIA test is performed as the procedure published by Guthrie and Susi [1] with PKU test agar and B.
Until the 1970s, metabolic specialists believed it was not necessary for children with PKU to stay on their special diet after age six.
If you wish to forgo the PKU test for your newborn infant, you may claim a religious exemption, sign a paper, and be done.
Originally published in 1977, Low Protein Cookery for PKU was a blessing for parents whose children had been diagnosed with phenylketonuria (PKU).
If too much phenylalanine accumulates in the blood of a baby with PKU (which can happen even before birth), it can result in mental retardation.