Data on genetic nature of phenylketonuria molecular mechanisms of its pathogenesis and approaches to treatment and prophylaxis of the disease are reviewed. Genetic heterogeneity of phenylketonuria, dependent on polylocus control of phenylalanine hydroxylase complex, is considered in detail. A possibility is discussed of the existence of the genetically different forms of phenylketonuria. Data on the molecular structure of phenylalanine hydroxylase and cooperative nature of its active site are discussed. Variations in pathogenesis of different forms of the phenylketonuria, theoretical and practical significance of these investigations are considered.
Annenkov G.A. (1982) Voprosy meditsinskoi khimii, 28(3), 62-70.
и др., Genetical heterogeneity of phenylketonuria //Voprosy meditsinskoi khimii.- 1982. -Т.28. -№ 3. С. 62-70.
и др., "Genetical heterogeneity of phenylketonuria." Voprosy meditsinskoi khimii 28.3 (1982): 62-70.
Annenkov G.A. (1982). Genetical heterogeneity of phenylketonuria. Voprosy meditsinskoi khimii, 28(3), 62-70.