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Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
Farlex Partner Medical Dictionary © Farlex 2012
Any of several genetic disorders, including phenylketonuria, that are characterized by abnormally high levels of phenylalanine in the blood.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
hyperphenylalaninemiaA group of 8 different congenital enzymopathies characterized by an accumulation of phenylalanine and related metabolites–eg, phenylpyruvate, phenyllactate, phenylacetate, phenylacetylglutamine, a deficiency of T4, T3, melanin and other proteins; the most common or 'classic' phenylketonuria–PKU or hyperphenylalaninemia, type 1 is an AR condition characterized by a deficiency in phenylalanine hydroxylase, which if not recognized early–urine has a 'mousy' odor—and treated by restricting dietary phenylalanine, results in tremors, seizures, eczema, hyperactivity, and hypopigmentation and IQ of < 50; other hyperphenylalaninemia types–eg, types 2, 3 and 7, are relatively benign
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
The presence of abnormally high blood levels of phenylalanine in newborn infants associated with phenylketonuria, maternal phenylketonuria, or transient deficiency of phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012