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. 1973 Feb;70(2):552-6.
doi: 10.1073/pnas.70.2.552.

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

P A Friedman, D B Fisher, E S Kang, S Kaufman
Free PMC article

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

P A Friedman et al. Proc Natl Acad Sci U S A. 1973 Feb.
Free PMC article

Abstract

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

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References

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