Observations indicating the nature of the mutation in phenylketonuria

K. H. Choo, R. G.H. Cotton, I. G. Jennings, D. M. Danks

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Abstract

Rabbit antiserum was prepared against purified normal human liver phenylalanine hydroxylase. This was used to test for cross-reacting material in crude extracts of livers from patients with classical phenylketonuria (PKU); the samples from patients were two livers obtained at autopsy and a needle biopsy core. None of these enzymically inactive livers contained detectable cross-reacting material capable of neutralizing antibody activity in double immunodiffusion and/or enzyme inhibition experiments. In an earlier study, no phenylalanine hydroxylase was found in the two autopsy PKU livers by an affinity chromatography method or by the use of a specific antiserum raised against purified monkey liver phenylalanine hydroxylase (Choo et al., 1979a). This evidence suggests that mutations in the PKU patients studied may be regulatory in nature.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume2
Issue number4
DOIs
Publication statusPublished - 1 Dec 1980
Externally publishedYes

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