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hyperphenylalaninemia

Pronunciation: hi'per-fen'il-al-a-ni-ne'me-a

Definition: The presence of abnormally high blood levels of phenylalanine, which may be associated with elevated tyrosine levels, in newborn infants (premature and full-term), associated with the heterozygous state of phenylketonuria, maternal phenylketonuria, or transient deficiency of phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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