hyperphenylalaninemia
hyperphenylalaninemia
[hi″per-fen″il-al″ah-nĭ-ne´me-ah]hy·per·phen·yl·al·a·ni·ne·mi·a
(hī'pĕr-fen'il-al-ă-ni-nē'mē-ă),hyperphenylalaninemia
(hī′pər-fĕn′əl-ăl′ə-nə-nē′mē-ə, -fē′nəl-)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 benignhy·per·phen·yl·al·a·ni·ne·mi·a
(hī'pĕr-fen'il-al'ă-ni-nē'mē-ă)Synonym(s): hyperphenylalaninaemia.