Title: Phenylalanine loading and aromatic acid excretion in normal subjects and heterozygotes for phenylketonuria
Journal Title: Clinica Chimica Acta
Publication Date: 18 May 1973
Start Page: 197
End Page: 205
Published online: online 20 January 2003
Affiliations: Department of Biochemistry and Biological Sciences Research Center of the Child Development Institute, University of North Carolina, School of Medicine, Chapel Hill, N.C. 27514 U.S.A.
Abstract: rch for better ways of detecting heterozygotes for phenylketonuria, oral loads of phenylalanine were given to the parents and siblings of affected patients, and the time-course of the urinary excretion of aromatic acids derived from phenylalanine was followed by a gas Chromatographie method. Aromatic acid excretion of subjects pre-treated with prednisolone and loaded with phenvlalanine reached a maximum 2–6 h after the load, when the urinary aromatic acid profiles of heterozygotes for phenylketonuria were distinguishable from those of normal subjects by a peak corresponding to o-hydroxyphenylacetic acid. Profiles from normal subjects were different, being characterized instead by a peak adjacent to that of o-hydroxyphenylacetic acid, and corresponding to 5-hydroxymethyl-2-furoic acid. This loading procedure was tested on normal volunteers, and one out of the 53 adults of both sexes was found to respond with an aromatic acid excretion profile that suggested heterozygosity for phenylketonuria; the phenylalanine tolerance curve and the other criteria supported this conclusion.
Received: 10 October 1972
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