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

/hy·per·phen·yl·al·a·nin·emia/ (-fen″il-al″ah-nĭ-ne´me-ah)
1. any of several inherited defects in the hydroxylation of phenylalanine causing it to be accumulated and excreted; some are benign while others cause phenylketonuria, at least one type of which is unresponsive to treatment and rapidly fatal.
2. excess of phenylalanine in the blood.

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

[hī′pərfen′ilal′əninē′mē·ə]
Etymology: Gk, hyper + (phenylalanine), haima, blood
an abnormally high concentration of phenylalanine in the blood. This symptom may be the result of one of several defects in the metabolic process of breaking down phenylalanine. See also phenylketonuria.

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 ?
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.
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.
Early motor development usually is normal, and hyperphenylalaninemia is absent.
4] deficiencies are characterized by the presence of neonatal hyperphenylalaninemia with abnormal urinary pterin excretion.
Dominant negative allele (N47D) in a compound heterozygoue for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
5 was used to provide additional evidence of a metabolic defect in the conversion of Phe to Tyr, indicative of a primary hyperphenylalaninemia.
5 to confirm the diagnosis of hyperphenylalaninemia.
The New York State Newborn Screening Program (NYSNSP)' screens -280 000 births annually, using dried blood specimens and bacterial inhibition assays (BIAs) to test for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia (HP), maple syrup urine disease (MSUD), and homocystinuria.
The individual diseased patient was diagnosed with hyperphenylalaninemia, hospitalized for several laboratory tests, and assessed by our physician consultants as having a definitive classification of PKU and undergoing dietary management.
Lab finding Symptoms in the Outcome newborn Abnormal karyotype Dysmorphic features Abortion, death, multisystem disorders Hyperphenylalaninemia None Mental retardation if untreated Low thyroxine, high Often none Clinical hypothyroidism thyrotropin with mental retardation if untreated Table 3.