hyperphenylalaninemia

(redirected from hyperphenylalaninaemia)

hyperphenylalaninemia

 [hi″per-fen″il-al″ah-nĭ-ne´me-ah]
an excess of phenylalanine in the blood, as in phenylketonuria.

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.

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.

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

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.
References in periodicals archive ?
Hyperphenylalaninaemia. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH (Editors).
KAMPER is the first Pan-European registry for patients suffering from hyperphenylalaninaemia (HPA), due to phenylketonuria (PKU) or tetrahydrobiopterin (BH4) deficiency, and treated with Kuvan (sapropterin dihydrochloride).
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninaemia in humans.
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetra hydropterin synthase deficiency or heterorygosity.