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Liver biopsy samples from the patients with hyperphenylalaninemia have an average of 5 percent of the normal hydroxylase activity. The parents of the patients have between 7.3 percent (excluding the value for one parent) and 10 percent of the normal hepatic hydroxylase activity. An explanation for these findings involves negative interallelic complementation, which involves protein-protein interaction between subunits in a multimeric enzyme. In support of this model is the evidence that rat liver phenylalanine hydroxylase is a multimeric protein composed of two electrophoretically distinguishable subunits.

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