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-)
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 ?
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Epilepsy was diagnosed in 2 children with hyperphenylalaninemia - moderate form (initial concentration of Phe was 16 mg%) and in one child with hyperphenylalaninemia (initial concentration of Phe was 7 mg%).
Biery, "DNA methylation in the pathophysiology of hyperphenylalaninemia in the [PAH.sup.enu2] mouse model of phenylketonuria," Molecular Genetics and Metabolism, vol.
Cases with high levels of Phe ([greater than or equal to] 2 in HPLC) confirmed as hyperphenylalaninemia.
[ClickPress, Mon May 19 2014] GlobalData's clinical trial report, "Hyperphenylalaninemia Global Clinical Trials Review, H1, 2014" provides data on the Hyperphenylalaninemia clinical trial scenario.
Developed by Merck Serono and BioMarin Pharmaceutical Inc, Kuvan (sapropterin dihydrochloride), is an oral therapeutic and the first treatment indicated in Europe for the treatment of hyperphenylalaninemia (HPA) due to phenylketonuria (PKU) in patients over the age of 4, or due to tetrahydrobiopterin (BH4) deficiency.
They assessed 253 4-year-olds; 149 were born to mothers with PKU who had poor metabolic control before conception and early in pregnancy, 33 were born to mothers with untreated mild hyperphenylalaninemia, and 71 were born to mothers in a control group.
Synthesis of a phenylalanine imprinted polymer for attenuation of phenylalanine absorption via the gut in a murine hyperphenylalaninemia model.
Normally inherited defects in BH4 metabolism are detected at the time of newborn screening, as BH4 is also required for the activity of phenylalanine hydroxylase in the liver and a deficiency of the cofactor leads to hyperphenylalaninemia (14).
Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States.
Inactivating mutations in GCH1 have been shown to cause dopa-responsive dystonia, and an atypical hyperphenylalaninemia characterized by mental retardation, seizures, hyperthermia, and abnormalities of muscle tone (12).
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.