hyperphenylalaninemia

hyperphenylalaninemia

 [hi″per-fen″il-al″ah-nĭ-ne´me-ah]

an excess of phenylalanine in the blood, as in phenylketonuria.

Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

hy·per·phen·yl·al·a·ni·ne·mi·a

(hī'pĕr-fen'il-al-ă-ni-nē'mē-ă),

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

hyperphenylalaninemia

(hī′pər-fĕn′əl-ăl′ə-nə-nē′mē-ə, -fē′nəl-)

n.

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.

hyperphenylalaninemia

A 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.

hy·per·phen·yl·al·a·ni·ne·mi·a

(hī'pĕr-fen'il-al'ă-ni-nē'mē-ă)

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.
Synonym(s): hyperphenylalaninaemia.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012