hyperphenylalaninemia /hy·per·phen·yl·al·a·nin·emia/ (-fen″il-al″ah-nĭ-ne´me-ah)
hyperphenylalaninemia
hyperphenylalaninemia
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.
hy·per·phen·yl·al·a·ni·ne·mi·a (h  p r-f nl- l -n-n m-, -fnl-)n. Abnormally high blood levels of phenylalanine, possibly associated with elevated tyrosine levels, seen especially in newborns. |
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
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