hyperphenylalaninemia

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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-)

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.

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References in periodicals archive ?

Hyperphenylalaninaemia. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH (Editors).

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.

Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil/Acesso ao tratamento para fenilcetonuria por via judicial no Rio Grande do Sul, Brasil

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).

Merck Serono initiates patients enrollment into KAMPER

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

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.

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia

Hyperphenylalaninaemia of various types among threequarters of a million neonates tested in a screening programme.

Multivariate discrimination for phenylketonuria (PKU) and non-pku hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography