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“…In atypical PKU, or hyperphenylalaninemia, phenylalanine hydroxylation occurs in extracts of hepatic tissue at about 3-5% the rate observed in extracts from normal liver (5)(6)(7).t By contrast, no phenylalanine 4-hydroxylase activity has been detected in liver tissue from individuals with classical PKU (1)(2)(3)(4)7). The most recent of these studies would have detected just under 1% of the activity found in normal liver (7).…”
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“…In atypical PKU, or hyperphenylalaninemia, phenylalanine hydroxylation occurs in extracts of hepatic tissue at about 3-5% the rate observed in extracts from normal liver (5)(6)(7).t By contrast, no phenylalanine 4-hydroxylase activity has been detected in liver tissue from individuals with classical PKU (1)(2)(3)(4)7). The most recent of these studies would have detected just under 1% of the activity found in normal liver (7).…”
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“…The genetic disease, phenylketonuria (PKU), is characterized by a deficiency of the enzyme, phenylalanine 4-hydroxylase (EC 1.14.3.1) (1)(2)(3)(4). In atypical PKU, or hyperphenylalaninemia, phenylalanine hydroxylation occurs in extracts of hepatic tissue at about 3-5% the rate observed in extracts from normal liver (5)(6)(7).t By contrast, no phenylalanine 4-hydroxylase activity has been detected in liver tissue from individuals with classical PKU (1)(2)(3)(4)7).…”
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“…A similar experiment was carried out using the soluble fraction of liver from a human premature infant, with the same result (Experiment 4, Table I). However, since this tissue was obtained at autopsy some time after the death of the infant, this result must be interpreted with caution, particularly in view of the apparent lability of this enzyme to autolysis (22).…”
Section: Phenylalanine Hydroxylationmentioning
“…One of these (Fraction I) is found only in liver, is quite labile, and has been shown to be deficient in the livers of phenylketonuric individuals (21,22). The second (Fraction II) is a stable enzyme which can be prepared from several tissues other than liver.…”
Section: Phenylalanine Hydroxylationmentioning
“…Recent work has focused mainly on the investigation of this hydroxylating system, its purification and mode of action (1)(2)(3)(4)(5), the inhibitory effect of phenylalanine and its derivatives on enzymes (6)(7)(8)(9), and the prevention of mental retardation by a diet low in phenylalanine (10,11).…”
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