Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1975-08

AUTHORS

Seymour Kaufman, Edward E Max, Ellen S Kang

ABSTRACT

Extract: Liver biopsy samples from the patients with hyperphenylalaninemia have an average of 5% of the normal hydroxylase activity. The parents of the patients have between 7.3% (excluding the value for one parent) and 10% of the normal hepatic hydroxylase activity. An explanation for these findings involves negative interallelic complementation, which involves protein-protein interaction between subunits in a multitneric enzyme. In support of this model is the evidence that rat liver phenylalanine hydroxylase is a multimeric protein composed of two electrophoretically distinguishable subunits.Speculation: The finding that parents of patients with hyperphenylalaninemia have an average of 10% of the normal level of hepatic phenylalanine hydroxylase, a multimeric enzyme, can be explained on the assumption that the liver tissue of heterozygotes has an excess of enzyme molecules that contain at least one mutant subunit. More... »

PAGES

632-634

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-197508000-00004

DOI

http://dx.doi.org/10.1203/00006450-197508000-00004

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009212712

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1153238


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